Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous <i>KDM5B</i> Variants

Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous <i>KDM5B</i> Variants

We studied a family in which the first-born child, a girl, had developmental delay, facial dysmorphism, and agenesis of the corpus callosum (ACC). The subsequent pregnancy was interrupted as the fetus was found to be also affected by ACC. Both cases were heterozygous for two <i>KDM5B</i>...

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Bibliographic Details
Main Authors: Sébastien Lebon, Mathieu Quinodoz, Virginie G. Peter, Carole Gengler, Gaëlle Blanchard, Viviane Cina, Belinda Campos-Xavier, Carlo Rivolta, Andrea Superti-Furga
Format: Article
Language:English
Published: MDPI AG 2021-09-01
Series:Genes
Subjects:
corpus callosum agenesis
<i>KDM5B</i>
Online Access:https://www.mdpi.com/2073-4425/12/9/1397

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https://www.mdpi.com/2073-4425/12/9/1397

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