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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
- Source :
- Global Medical Genetics, Vol 11, Iss 01, Pp 013-019 (2024)
- Publication Year :
- 2024
- Publisher :
- Georg Thieme Verlag KG, 2024.
-
Abstract
- 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 systems. In present study, we report two patients with core features from two unrelated consanguineous families originating from the Tianjin Children's Hospital.
Details
- Language :
- English
- ISSN :
- 26999404
- Volume :
- 11
- Issue :
- 01
- Database :
- Directory of Open Access Journals
- Journal :
- Global Medical Genetics
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.2a05badb46a948e494c083a40f0f3cd2
- Document Type :
- article
- Full Text :
- https://doi.org/10.1055/s-0043-1778089