Allelic and dosage effects of NHS in X-linked cataract and Nance–Horan syndrome: a family study and literature review

Allelic and dosage effects of NHS in X-linked cataract and Nance–Horan syndrome: a family study and literature review

Abstract Nance–Horan syndrome (NHS) is a rare X-linked dominant disorder caused by mutation in the NHS gene on chromosome Xp22.13. (OMIM 302350). Classic NHS manifested in males is characterized by congenital cataracts, dental anomalies, dysmorphic facial features and occasionally intellectual disab...

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Bibliographic Details
Main Authors: Caroline Miller, Benjamin G. Gertsen, Audrey L. Schroeder, Chin-To Fong, M. Anwar Iqbal, Bin Zhang
Format: Article
Language:English
Published: BMC 2021-10-01
Series:Molecular Cytogenetics
Subjects:
Nance–Horan syndrome
X-linked cataract
NHS
X chromosome inactivation (XCI)
X-autosome translocation
Gene disruption
Online Access:https://doi.org/10.1186/s13039-021-00566-x

Internet

https://doi.org/10.1186/s13039-021-00566-x

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