A novel nonsense variant in POGZ expanding the spectrum of White-Sutton syndrome: A case report

White-Sutton Syndrome (WHSUS) is a rare neurodevelopmental genetic disorder with an autosomal dominant mode of inheritance. Truncating mutations in pogo transposable element with zinc finger domain (POGZ) gene have been reported in cases of WHSUS. In this article, we present the first diagnosed case...

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Hlavní autoři:	Alain Chebly, Nabiha Salem, Romy Moussallem, Adib Moukarzel
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Elsevier 2024-11-01
Edice:	Heliyon
Témata:	POGZ White-Sutton syndrome Neurodevelopmental disorder Whole exome sequencing Case report
On-line přístup:	http://www.sciencedirect.com/science/article/pii/S2405844024160884
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