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...

पूर्ण विवरण

ग्रंथसूची विवरण

मुख्य लेखकों:	Mei Sun, Qing Li, Ying Zhang, Yingzi Cai, Yan Dong, Jianbo Shu, Dong Li, Chunquan Cai
स्वरूप:	Artigo
भाषा:	Inglês
प्रकाशित:	KeAi Communications Co., Ltd. 2024-01-01
श्रृंखला:	Global Medical Genetics
विषय:	USP7 development delay intellectual disability whole-exome sequencing Hao-Fountain syndrome
ऑनलाइन पहुंच:	http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1778089
टैग:	टैग जोड़ें कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!