Identification of Two Variants c.2697A > C and c.3305A > C in USP7 by Analysis of Whole-Exome Sequencing in Chinese Patients with Hao-Fountain Syndrome

Background Variants of ubiquitin-specific protease 7 (USP7) gene in humans are associated with a neurodevelopmental disorder—Hao-Fountain syndrome, its core symptoms including developmental delay, intellectual disability, and speech delay. Other variable symptoms can affect multiple syste...

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Główni autorzy:	Mei Sun, Qing Li, Ying Zhang, Yingzi Cai, Yan Dong, Jianbo Shu, Dong Li, Chunquan Cai
Format:	Artigo
Język:	Inglês
Wydane:	KeAi Communications Co., Ltd. 2024-01-01
Seria:	Global Medical Genetics
Hasła przedmiotowe:	USP7 development delay intellectual disability whole-exome sequencing Hao-Fountain syndrome
Dostęp online:	http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1778089
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