Article
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.
Clinical genetics - 1 May 2022
Almannai Mohammed, Marafi Dana, Abdel-Salam Ghada M H, Zaki Maha S, Duan Ruizhi, Calame Daniel, Herman Isabella, Levesque Felix, Elbendary Hasnaa M, Hegazy Ibrahim, Chung Wendy K, Kavus Haluk, Saeidi Kolsoum, Maroofian Reza, AlHashim Aqeela, Al-Otaibi Ali, Al Madhi Asma, Abou Al-Seood Hager M, Alasmari Ali, Houlden Henry, Gleeson Joseph G, Hunter Jill V, Posey Jennifer E, Lupski James R, El-Hattab Ayman W
Abstract excerpt
Homozygous pathogenic variants in WDR45B were first identified in six subjects from three unrelated families with global development delay, refractory seizures, spastic quadriplegia, and brain malformations. Since the initial report in 2018, no further cases have been described. In this report, we present 12 additional individuals from seven unrelated families and their clinical, radiological, and molecular...
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