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. Among authors: al madhi a.
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.