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Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
Nat Genet. 2018 Aug;50(8):1093-1101. doi: 10.1038/s41588-018-0166-0. Epub 2018 Jul 16.
Nat Genet. 2018.
PMID: 30013181
Free PMC article.
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
Lin YC, Niceta M, Muto V, Vona B, Pagnamenta AT, Maroofian R, Beetz C, van Duyvenvoorde H, Dentici ML, Lauffer P, Vallian S, Ciolfi A, Pizzi S, Bauer P, Grüning NM, Bellacchio E, Del Fattore A, Petrini S, Shaheen R, Tiosano D, Halloun R, Pode-Shakked B, Albayrak HM, Işık E, Wit JM, Dittrich M, Freire BL, Bertola DR, Jorge AAL, Barel O, Sabir AH, Al Tenaiji AMJ, Taji SM, Al-Sannaa N, Al-Abdulwahed H, Digilio MC, Irving M, Anikster Y, Bhavani GSL, Girisha KM; Genomics England Research Consortium; Haaf T, Taylor JC, Dallapiccola B, Alkuraya FS, Yang RB, Tartaglia M.
Lin YC, et al.
Am J Hum Genet. 2021 Jan 7;108(1):115-133. doi: 10.1016/j.ajhg.2020.11.015. Epub 2020 Dec 11.
Am J Hum Genet. 2021.
PMID: 33308444
Free PMC article.
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The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia.
Al-Sannaa NA, Al-Abdulwahed HY, Al-Majed SI, Bouholaigah IH.
Al-Sannaa NA, et al. Among authors: al abdulwahed hy.
J Community Genet. 2018 Jan;9(1):65-70. doi: 10.1007/s12687-017-0329-1. Epub 2017 Sep 15.
J Community Genet. 2018.
PMID: 28914427
Free PMC article.
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Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1.
Al-Sannaa NA, Hoornaert KP, Van Laer L, Al-Abdulwahed HY, Mortier G.
Al-Sannaa NA, et al. Among authors: al abdulwahed hy.
Eur J Med Genet. 2020 Dec;63(12):104059. doi: 10.1016/j.ejmg.2020.104059. Epub 2020 Sep 5.
Eur J Med Genet. 2020.
PMID: 32896647
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Nail-Patella Syndrome: A Report of a Saudi Arab Family With an Autosomal Recessive Inheritance.
Al-Dawsari N, Al-Mokhadam A, Al-Abdulwahed H, Al-Sannaa N.
Al-Dawsari N, et al.
J Cutan Med Surg. 2015 Nov-Dec;19(6):595-9. doi: 10.1177/1203475415588659. Epub 2015 May 29.
J Cutan Med Surg. 2015.
PMID: 26025008
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