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

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, d...
Source: Molecular Cytogenetics - Category: Molecular Biology Authors: Tags: Case Report Source Type: research