NHS Gene Mutations in Ashkenazi Jewish Families with Nance–Horan Syndrome
Author:
Affiliation:
1. The Matlow’s Ophthalmo-genetics Laboratory, Assaf-Harofeh Medical Center, Zerifin, Israel
2. Department of Ophthalmology, Assaf-Harofeh Medical Center, Zerifin, Israel
3. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Funder
Clair and Amedee Maratier Institute for the Study of Blindness and Visual Disorders, Sackler Faculty of Medicine, Tel-Aviv University
Chief Scientist Office of the Ministry of Health and the 'Lirot' Association
Publisher
Informa UK Limited
Subject
Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology
Link
https://www.tandfonline.com/doi/pdf/10.1080/02713683.2017.1304560
Reference18 articles.
1. The Nance-Horan syndrome.
2. X-linked cataract and Nance-Horan syndrome are allelic disorders
3. Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing
4. The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly
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1. A novel frameshift mutation in the NHS gene causes Nance-Horan syndrome in a Chinese family;Gene;2024-05
2. A novel Nance-Horan syndrome mutation identified by next-generation sequencing in a Chinese family;International Journal of Ophthalmology;2022-06-18
3. Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts;International Journal of Molecular Sciences;2021-11-24
4. Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome;Brain Sciences;2021-08-29
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