Article
Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations.
Neurogenetics - 1 Oct 2021
Abdel-Hamid Mohamed S, Sabry Sahar, Abdel-Ghafar Sherif F, El-Dessouky Sara H, Abdel-Salam Ghada M H
Abstract excerpt
Fetal brain arrest is an extremely rare genetic disorder that was described in few patients and encompasses very unique findings of underdeveloped cerebral hemispheres in association with collapsed skull bones. Based on the recurrence among sibs, an autosomal recessive mode of inheritance was proposed; however, no causative gene was identified so far. Here, we report the identification of biallelic variants in...
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