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El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.
Almannai M, Marafi D, Abdel-Salam GMH, Zaki MS, Duan R, Calame D, Herman I, Levesque F, Elbendary HM, Hegazy I, Chung WK, Kavus H, Saeidi K, Maroofian R, AlHashim A, Al-Otaibi A, Al Madhi A, Abou Al-Seood HM, Alasmari A, Houlden H, Gleeson JG, Hunter JV, Posey JE, Lupski JR, El-Hattab AW. Almannai M, et al. Clin Genet. 2022 May;101(5-6):530-540. doi: 10.1111/cge.14132. Epub 2022 Apr 12. Clin Genet. 2022. PMID: 35322404 Free PMC article.
Mutations in TP73 cause impaired mucociliary clearance and lissencephaly.
Wallmeier J, Bracht D, Alsaif HS, Dougherty GW, Olbrich H, Cindric S, Dzietko M, Heyer C, Teig N, Thiels C, Faqeih E, Al-Hashim A, Khan S, Mogarri I, Almannai M, Al Otaibi W, Alkuraya FS, Koerner-Rettberg C, Omran H. Wallmeier J, et al. Among authors: al hashim a. Am J Hum Genet. 2021 Jul 1;108(7):1318-1329. doi: 10.1016/j.ajhg.2021.05.002. Epub 2021 Jun 1. Am J Hum Genet. 2021. PMID: 34077761 Free PMC article.
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