22q11.2 copy number variation syndrome (WP4657)

Homo sapiens

Authors

Friederike Ehrhart , Victor Avramov , Egon Willighagen , Lauren J. Dupuis , Magda M. Latorre , and Eric Weitz

Activity

Discuss this pathway

Check for ongoing discussions or start your own.

Cited In

• The Biological Interaction of SARS-CoV-2 Infection and Osteoporosis: A Preliminary Study (2022).

Are you planning to include this pathway in your next publication? See How to Cite and add a link here to your paper once it's online.

Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Disease Ontology

velocardiofacial syndrome

Pathway Ontology

disease pathway neurological disorder pathway

References

1. RanBP1, a Ras-like nuclear G protein binding to Ran/TC4, inhibits RCC1 via Ran/TC4. Hayashi N, Yokoyama N, Seki T, Azuma Y, Ohba T, Nishimoto T. Mol Gen Genet. 1995 Jun 25;247(6):661–9. PubMed Europe PMC Scholia
2. Co-activation of RanGTPase and inhibition of GTP dissociation by Ran-GTP binding protein RanBP1. Bischoff FR, Krebber H, Smirnova E, Dong W, Ponstingl H. EMBO J. 1995 Feb 15;14(4):705–15. PubMed Europe PMC Scholia
3. Cloning and characterization of a human phosphatidylinositol 4-kinase. Wong K, Cantley LC. J Biol Chem. 1994 Nov 18;269(46):28878–84. PubMed Europe PMC Scholia
4. Recruitment of the tinman homolog Nkx-2.5 by serum response factor activates cardiac alpha-actin gene transcription. Chen CY, Schwartz RJ. Mol Cell Biol. 1996 Nov;16(11):6372–84. PubMed Europe PMC Scholia
5. UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. Pizzuti A, Novelli G, Ratti A, Amati F, Mari A, Calabrese G, et al. Hum Mol Genet. 1997 Feb;6(2):259–65. PubMed Europe PMC Scholia
6. Cloning of P2XM, a novel human P2X receptor gene regulated by p53. Urano T, Nishimori H, Han H, Furuhata T, Kimura Y, Nakamura Y, et al. Cancer Res. 1997 Aug 1;57(15):3281–7. PubMed Europe PMC Scholia
7. Direct interaction of the KRAB/Cys2-His2 zinc finger protein ZNF74 with a hyperphosphorylated form of the RNA polymerase II largest subunit. Grondin B, Côté F, Bazinet M, Vincent M, Aubry M. J Biol Chem. 1997 Oct 31;272(44):27877–85. PubMed Europe PMC Scholia
8. The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome. Sperandeo MP, Borsani G, Incerti B, Zollo M, Rossi E, Zuffardi O, et al. Genomics. 1998 Apr 15;49(2):230–6. PubMed Europe PMC Scholia
9. Goosecoid-like, a gene deleted in DiGeorge and velocardiofacial syndromes, recognizes DNA with a bicoid-like specificity and is expressed in the developing mouse brain. Gottlieb S, Hanes SD, Golden JA, Oakey RJ, Budarf ML. Hum Mol Genet. 1998 Sep;7(9):1497–505. PubMed Europe PMC Scholia
10. The exon splicing silencer in human immunodeficiency virus type 1 Tat exon 3 is bipartite and acts early in spliceosome assembly. Si ZH, Rauch D, Stoltzfus CM. Mol Cell Biol. 1998 Sep;18(9):5404–13. PubMed Europe PMC Scholia
11. Core histones and HIRIP3, a novel histone-binding protein, directly interact with WD repeat protein HIRA. Lorain S, Quivy JP, Monier-Gavelle F, Scamps C, Lécluse Y, Almouzni G, et al. Mol Cell Biol. 1998 Sep;18(9):5546–56. PubMed Europe PMC Scholia
12. HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3. Magnaghi P, Roberts C, Lorain S, Lipinski M, Scambler PJ. Nat Genet. 1998 Sep;20(1):74–7. PubMed Europe PMC Scholia
13. Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11. Funke B, Puech A, Saint-Jore B, Pandita R, Skoultchi A, Morrow B. Genomics. 1998 Oct 15;53(2):146–54. PubMed Europe PMC Scholia
14. A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Yamagishi H, Garg V, Matsuoka R, Thomas T, Srivastava D. Science. 1999 Feb 19;283(5405):1158–61. PubMed Europe PMC Scholia
15. The septin CDCrel-1 binds syntaxin and inhibits exocytosis. Beites CL, Xie H, Bowser R, Trimble WS. Nat Neurosci. 1999 May;2(5):434–9. PubMed Europe PMC Scholia
16. GTP hydrolysis links initiation and termination of nuclear import on the nucleoporin nup358. Yaseen NR, Blobel G. J Biol Chem. 1999 Sep 10;274(37):26493–502. PubMed Europe PMC Scholia
17. The zinc finger cluster domain of RanBP2 is a specific docking site for the nuclear export factor, exportin-1. Singh BB, Patel HH, Roepman R, Schick D, Ferreira PA. J Biol Chem. 1999 Dec 24;274(52):37370–8. PubMed Europe PMC Scholia
18. Facilitated nucleocytoplasmic shuttling of the Ran binding protein RanBP1. Plafker K, Macara IG. Mol Cell Biol. 2000 May;20(10):3510–21. PubMed Europe PMC Scholia
19. The armadillo repeat region targets ARVCF to cadherin-based cellular junctions. Kaufmann U, Zuppinger C, Waibler Z, Rudiger M, Urbich C, Martin B, et al. J Cell Sci. 2000 Nov;113 ( Pt 22):4121–35. PubMed Europe PMC Scholia
20. Identification of a receptor mediating Nogo-66 inhibition of axonal regeneration. Fournier AE, GrandPre T, Strittmatter SM. Nature. 2001 Jan 18;409(6818):341–6. PubMed Europe PMC Scholia
21. The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders. Kenmochi N, Suzuki T, Uechi T, Magoori M, Kuniba M, Higa S, et al. Genomics. 2001 Sep;77(1–2):65–70. PubMed Europe PMC Scholia
22. Association of ZNF74 gene genotypes with age-at-onset of schizophrenia. Takase K, Ohtsuki T, Migita O, Toru M, Inada T, Yamakawa-Kobayashi K, et al. Schizophr Res. 2001 Dec 1;52(3):161–5. PubMed Europe PMC Scholia
23. RanGAP mediates GTP hydrolysis without an arginine finger. Seewald MJ, Körner C, Wittinghofer A, Vetter IR. Nature. 2002 Feb 7;415(6872):662–6. PubMed Europe PMC Scholia
24. Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia. Liu H, Heath SC, Sobin C, Roos JL, Galke BL, Blundell ML, et al. Proc Natl Acad Sci U S A. 2002 Mar 19;99(6):3717–22. PubMed Europe PMC Scholia
25. Human septin-septin interaction: CDCrel-1 partners with KIAA0202. Bläser S, Jersch K, Hainmann I, Wunderle D, Zgaga-Griesz A, Busse A, et al. FEBS Lett. 2002 May 22;519(1–3):169–72. PubMed Europe PMC Scholia
26. Expression of solute carrier 7A4 (SLC7A4) in the plasma membrane is not sufficient to mediate amino acid transport activity. Wolf S, Janzen A, Vékony N, Martiné U, Strand D, Closs EI. Biochem J. 2002 Jun 15;364(Pt 3):767–75. PubMed Europe PMC Scholia
27. A genetic link between Tbx1 and fibroblast growth factor signaling. Vitelli F, Taddei I, Morishima M, Meyers EN, Lindsay EA, Baldini A. Development. 2002 Oct;129(19):4605–11. PubMed Europe PMC Scholia
28. P75 interacts with the Nogo receptor as a co-receptor for Nogo, MAG and OMgp. Wang KC, Kim JA, Sivasankaran R, Segal R, He Z. Nature. 2002 Nov 7;420(6911):74–8. PubMed Europe PMC Scholia
29. Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer. Yamagishi H, Maeda J, Hu T, McAnally J, Conway SJ, Kume T, et al. Genes Dev. 2003 Jan 15;17(2):269–81. PubMed Europe PMC Scholia
30. Isolation of new splice isoforms, characterization and expression analysis of the human septin SEPT8 (KIAA0202). Bläser S, Jersch K, Hainmann I, Zieger W, Wunderle D, Busse A, et al. Gene. 2003 Jul 17;312:313–20. PubMed Europe PMC Scholia
31. Role of claudin interactions in airway tight junctional permeability. Coyne CB, Gambling TM, Boucher RC, Carson JL, Johnson LG. Am J Physiol Lung Cell Mol Physiol. 2003 Nov;285(5):L1166-78. PubMed Europe PMC Scholia
32. SEPT5_v2 is a parkin-binding protein. Choi P, Snyder H, Petrucelli L, Theisler C, Chong M, Zhang Y, et al. Brain Res Mol Brain Res. 2003 Oct 7;117(2):179–89. PubMed Europe PMC Scholia
33. Expression analysis of the human testis-specific serine/threonine kinase (TSSK) homologues. A TSSK member is present in the equatorial segment of human sperm. Hao Z, Jha KN, Kim YH, Vemuganti S, Westbrook VA, Chertihin O, et al. Mol Hum Reprod. 2004 Jun;10(6):433–44. PubMed Europe PMC Scholia
34. Identification and characterization of ANKK1: a novel kinase gene closely linked to DRD2 on chromosome band 11q23.1. Neville MJ, Johnstone EC, Walton RT. Hum Mutat. 2004 Jun;23(6):540–5. PubMed Europe PMC Scholia
35. Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract. Xu H, Morishima M, Wylie JN, Schwartz RJ, Bruneau BG, Lindsay EA, et al. Development. 2004 Jul;131(13):3217–27. PubMed Europe PMC Scholia
36. Human THAP7 is a chromatin-associated, histone tail-binding protein that represses transcription via recruitment of HDAC3 and nuclear hormone receptor corepressor. Macfarlan T, Kutney S, Altman B, Montross R, Yu J, Chakravarti D. J Biol Chem. 2005 Feb 25;280(8):7346–58. PubMed Europe PMC Scholia
37. Formation of MacroH2A-containing senescence-associated heterochromatin foci and senescence driven by ASF1a and HIRA. Zhang R, Poustovoitov MV, Ye X, Santos HA, Chen W, Daganzo SM, et al. Dev Cell. 2005 Jan;8(1):19–30. PubMed Europe PMC Scholia
38. Retinoic acid down-regulates Tbx1 expression in vivo and in vitro. Roberts C, Ivins SM, James CT, Scambler PJ. Dev Dyn. 2005 Apr;232(4):928–38. PubMed Europe PMC Scholia
39. Molecular cloning and characterization of a human AIF-like gene with ability to induce apoptosis. Xie Q, Lin T, Zhang Y, Zheng J, Bonanno JA. J Biol Chem. 2005 May 20;280(20):19673–81. PubMed Europe PMC Scholia
40. The orphan nuclear receptor RORalpha regulates circadian transcription of the mammalian core-clock Bmal1. Akashi M, Takumi T. Nat Struct Mol Biol. 2005 May;12(5):441–8. PubMed Europe PMC Scholia
41. Loss of Gbx2 results in neural crest cell patterning and pharyngeal arch artery defects in the mouse embryo. Byrd NA, Meyers EN. Dev Biol. 2005 Aug 1;284(1):233–45. PubMed Europe PMC Scholia
42. Microarray analysis detects differentially expressed genes in the pharyngeal region of mice lacking Tbx1. Ivins S, Lammerts van Beuren K, Roberts C, James C, Lindsay E, Baldini A, et al. Dev Biol. 2005 Sep 15;285(2):554–69. PubMed Europe PMC Scholia
43. The histone H3.3 chaperone HIRA is essential for chromatin assembly in the male pronucleus. Loppin B, Bonnefoy E, Anselme C, Laurençon A, Karr TL, Couble P. Nature. 2005 Oct 27;437(7063):1386–90. PubMed Europe PMC Scholia
44. Differential control of Bmal1 circadian transcription by REV-ERB and ROR nuclear receptors. Guillaumond F, Dardente H, Giguère V, Cermakian N. J Biol Rhythms. 2005 Oct;20(5):391–403. PubMed Europe PMC Scholia
45. Crkl deficiency disrupts Fgf8 signaling in a mouse model of 22q11 deletion syndromes. Moon AM, Guris DL, Seo J heui, Li L, Hammond J, Talbot A, et al. Dev Cell. 2006 Jan;10(1):71–80. PubMed Europe PMC Scholia
46. Phosphorylation of RanGAP1 stabilizes its interaction with Ran and RanBP1. Takeda E, Hieda M, Katahira J, Yoneda Y. Cell Struct Funct. 2005;30(2):69–80. PubMed Europe PMC Scholia
47. Localization of MCM2-7, Cdc45, and GINS to the site of DNA unwinding during eukaryotic DNA replication. Pacek M, Tutter AV, Kubota Y, Takisawa H, Walter JC. Mol Cell. 2006 Feb 17;21(4):581–7. PubMed Europe PMC Scholia
48. Tbx1 affects asymmetric cardiac morphogenesis by regulating Pitx2 in the secondary heart field. Nowotschin S, Liao J, Gage PJ, Epstein JA, Campione M, Morrow BE. Development. 2006 Apr;133(8):1565–73. PubMed Europe PMC Scholia
49. Human endothelial cell septins: SEPT11 is an interaction partner of SEPT5. Bläser S, Röseler S, Rempp H, Bartsch I, Bauer H, Lieber M, et al. J Pathol. 2006 Sep;210(1):103–10. PubMed Europe PMC Scholia
50. An ARC/Mediator subunit required for SREBP control of cholesterol and lipid homeostasis. Yang F, Vought BW, Satterlee JS, Walker AK, Jim Sun ZY, Watts JL, et al. Nature. 2006 Aug 10;442(7103):700–4. PubMed Europe PMC Scholia
51. Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy. Aggarwal VS, Liao J, Bondarev A, Schimmang T, Lewandoski M, Locker J, et al. Hum Mol Genet. 2006 Nov 1;15(21):3219–28. PubMed Europe PMC Scholia
52. Coactivator control of cardiovascular growth and remodeling. Liu N, Olson EN. Curr Opin Cell Biol. 2006 Dec;18(6):715–22. PubMed Europe PMC Scholia
53. Is COMT a susceptibility gene for schizophrenia? Williams HJ, Owen MJ, O’Donovan MC. Schizophr Bull. 2007 May;33(3):635–41. PubMed Europe PMC Scholia
54. Strong evidence that GNB1L is associated with schizophrenia. Williams NM, Glaser B, Norton N, Williams H, Pierce T, Moskvina V, et al. Hum Mol Genet. 2008 Feb 15;17(4):555–66. PubMed Europe PMC Scholia
55. Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model. Stark KL, Xu B, Bagchi A, Lai WS, Liu H, Hsu R, et al. Nat Genet. 2008 Jun;40(6):751–60. PubMed Europe PMC Scholia
56. Parkin regulates Eg5 expression by Hsp70 ubiquitination-dependent inactivation of c-Jun NH2-terminal kinase. Liu M, Aneja R, Sun X, Xie S, Wang H, Wu X, et al. J Biol Chem. 2008 Dec 19;283(51):35783–8. PubMed Europe PMC Scholia
57. Supportive evidence for reduced expression of GNB1L in schizophrenia. Ishiguro H, Koga M, Horiuchi Y, Noguchi E, Morikawa M, Suzuki Y, et al. Schizophr Bull. 2010 Jul;36(4):756–65. PubMed Europe PMC Scholia
58. Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse. Choi M, Klingensmith J. PLoS Genet. 2009 Feb;5(2):e1000395. PubMed Europe PMC Scholia
59. A role for the CHC22 clathrin heavy-chain isoform in human glucose metabolism. Vassilopoulos S, Esk C, Hoshino S, Funke BH, Chen CY, Plocik AM, et al. Science. 2009 May 29;324(5931):1192–6. PubMed Europe PMC Scholia
60. Tbx1 regulates proliferation and differentiation of multipotent heart progenitors. Chen L, Fulcoli FG, Tang S, Baldini A. Circ Res. 2009 Oct 23;105(9):842–51. PubMed Europe PMC Scholia
61. DGCR6L, a novel PAK4 interaction protein, regulates PAK4-mediated migration of human gastric cancer cell via LIMK1. Li X, Ke Q, Li Y, Liu F, Zhu G, Li F. Int J Biochem Cell Biol. 2010 Jan;42(1):70–9. PubMed Europe PMC Scholia
62. The Cul3-KLHL21 E3 ubiquitin ligase targets aurora B to midzone microtubules in anaphase and is required for cytokinesis. Maerki S, Olma MH, Staubli T, Steigemann P, Gerlich DW, Quadroni M, et al. J Cell Biol. 2009 Dec 14;187(6):791–800. PubMed Europe PMC Scholia
63. Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome. van Bueren KL, Papangeli I, Rochais F, Pearce K, Roberts C, Calmont A, et al. Dev Biol. 2010 Apr 15;340(2):369–80. PubMed Europe PMC Scholia
64. Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome. Bedeschi MF, Colombo L, Mari F, Hofmann K, Rauch A, Gentilin B, et al. Mol Syndromol. 2010;1(5):239–45. PubMed Europe PMC Scholia
65. Human Bop is a novel BH3-only member of the Bcl-2 protein family. Zhang X, Weng C, Li Y, Wang X, Jiang C, Li X, et al. Protein Cell. 2012 Oct;3(10):790–801. PubMed Europe PMC Scholia
66. Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS. McDonald-McGinn DM, Fahiminiya S, Revil T, Nowakowska BA, Suhl J, Bailey A, et al. J Med Genet. 2013 Feb;50(2):80–90. PubMed Europe PMC Scholia
67. Hematological abnormalities and 22q11.2 deletion syndrome. Rosa RFM, Rosa RCM, Dos Santos PPA, Zen PRG, Paskulin GA. Rev Bras Hematol Hemoter. 2011;33(2):151–4. PubMed Europe PMC Scholia
68. Derepression of a neuronal inhibitor due to miRNA dysregulation in a schizophrenia-related microdeletion. Xu B, Hsu PK, Stark KL, Karayiorgou M, Gogos JA. Cell. 2013 Jan 17;152(1–2):262–75. PubMed Europe PMC Scholia
69. Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome. de la Morena MT, Eitson JL, Dozmorov IM, Belkaya S, Hoover AR, Anguiano E, et al. Clin Immunol. 2013 Apr;147(1):11–22. PubMed Europe PMC Scholia
70. Ubiquitylation-dependent localization of PLK1 in mitosis. Beck J, Maerki S, Posch M, Metzger T, Persaud A, Scheel H, et al. Nat Cell Biol. 2013 Apr;15(4):430–9. PubMed Europe PMC Scholia
71. CUL3 and protein kinases: insights from PLK1/KLHL22 interaction. Metzger T, Kleiss C, Sumara I. Cell Cycle. 2013 Jul 15;12(14):2291–6. PubMed Europe PMC Scholia
72. Processing of microRNA primary transcripts requires heme in mammalian cells. Weitz SH, Gong M, Barr I, Weiss S, Guo F. Proc Natl Acad Sci U S A. 2014 Feb 4;111(5):1861–6. PubMed Europe PMC Scholia
73. MicroRNA-9 and microRNA-326 regulate human dopamine D2 receptor expression, and the microRNA-mediated expression regulation is altered by a genetic variant. Shi S, Leites C, He D, Schwartz D, Moy W, Shi J, et al. J Biol Chem. 2014 May 9;289(19):13434–44. PubMed Europe PMC Scholia
74. Specific disruption of thalamic inputs to the auditory cortex in schizophrenia models. Chun S, Westmoreland JJ, Bayazitov IT, Eddins D, Pani AK, Smeyne RJ, et al. Science. 2014 Jun 6;344(6188):1178–82. PubMed Europe PMC Scholia
75. Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndrome. Sellier C, Hwang VJ, Dandekar R, Durbin-Johnson B, Charlet-Berguerand N, Ander BP, et al. PLoS One. 2014 Aug 1;9(8):e103884. PubMed Europe PMC Scholia
76. A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development. Nahorski MS, Al-Gazali L, Hertecant J, Owen DJ, Borner GHH, Chen YC, et al. Brain. 2015 Aug;138(Pt 8):2147–60. PubMed Europe PMC Scholia
77. MicroRNA-649 promotes HSV-1 replication by directly targeting MALT1. Zhang Y, Dai J, Tang J, Zhou L, Zhou M. J Med Virol. 2017 Jun;89(6):1069–79. PubMed Europe PMC Scholia
78. The Candidate Schizophrenia Risk Gene DGCR2 Regulates Early Steps of Corticogenesis. Molinard-Chenu A, Dayer A. Biol Psychiatry. 2018 Apr 15;83(8):692–706. PubMed Europe PMC Scholia
79. LINC00037 Inhibits Proliferation of Renal Cell Carcinoma Cells in an Epidermal Growth Factor Receptor-Dependent Way. Gong X, Du X, Xu Y, Zheng W. Cell Physiol Biochem. 2018;45(2):523–36. PubMed Europe PMC Scholia
80. Ess2 bridges transcriptional regulators and spliceosomal complexes via distinct interacting domains. Takada I, Tsuchiya M, Yanaka K, Hidano S, Takahashi S, Kobayashi T, et al. Biochem Biophys Res Commun. 2018 Mar 4;497(2):597–604. PubMed Europe PMC Scholia
81. Role of DiGeorge syndrome critical region gene 9, a long noncoding RNA, in gastric cancer. Ni C, Yang P, Guo J, Ye M. Onco Targets Ther. 2018 Apr 19;11:2259–67. PubMed Europe PMC Scholia
82. KLHL22 activates amino-acid-dependent mTORC1 signalling to promote tumorigenesis and ageing. Chen J, Ou Y, Yang Y, Li W, Xu Y, Xie Y, et al. Nature. 2018 May;557(7706):585–9. PubMed Europe PMC Scholia
83. Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. Umeki I, Niihori T, Abe T, Kanno SI, Okamoto N, Mizuno S, et al. Hum Genet. 2019 Jan;138(1):21–35. PubMed Europe PMC Scholia
84. TRMT2A is a novel cell cycle regulator that suppresses cell proliferation. Chang YH, Nishimura S, Oishi H, Kelly VP, Kuno A, Takahashi S. Biochem Biophys Res Commun. 2019 Jan 8;508(2):410–5. PubMed Europe PMC Scholia
85. DGCR2 influences cortical thickness through a mechanism independent of schizophrenia pathogenesis. Belangero SI, Ota VK, Gadelha A, Berberian AA, Assunção-Leme IB de, Noto C, et al. Psychiatry Res. 2019 Apr;274:391–4. PubMed Europe PMC Scholia
86. TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism. Jennions E, Hedberg-Oldfors C, Berglund AK, Kollberg G, Törnhage CJ, Eklund EA, et al. J Inherit Metab Dis. 2019 Sep;42(5):898–908. PubMed Europe PMC Scholia
87. Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa. Yi Z, Ouyang J, Sun W, Li S, Xiao X, Zhang Q. EBioMedicine. 2020 Jun;56:102792. PubMed Europe PMC Scholia
88. Candidate genes of oculo-auriculo-vertebral spectrum in 22q region: A systematic review. Glaeser AB, Santos AS, Diniz BL, Deconte D, Rosa RFM, Zen PRG. Am J Med Genet A. 2020 Nov;182(11):2624–31. PubMed Europe PMC Scholia