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...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2021-10-01
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Series: | Molecular Cytogenetics |
Subjects: | |
Online Access: | https://doi.org/10.1186/s13039-021-00566-x |