NHS Gene Mutations in Ashkenazi Jewish Families with Nance–Horan Syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Current Eye Research"
DOI: 10.1080/02713683.2017.1304560
Abstract: ABSTRACT Purpose: To describe ocular and extraocular abnormalities in two Ashkenazi Jewish families with infantile cataract and X-linked inheritance, and to identify their underlying mutations. Methods: Seven affected members were recruited. Medical history, clinical findings,… read more here.
Keywords: horan syndrome; nhs gene; ashkenazi jewish; jewish families ... See more keywords
Nance–Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature
Sign Up to like & getrecommendations! Published in 2018 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2017.1363245
Abstract: ABSTRACT The Nance–Horan syndrome is an X-linked disorder characterized by congenital cataract, facial features, microcornea, microphthalmia, and dental anomalies; most of the cases are due to NHS gene mutations on Xp22.13. Heterozygous carrier females generally… read more here.
Keywords: horan syndrome; nhs gene; balanced translocation; nance horan ... See more keywords