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Autor:
Caroline Miller, Benjamin G. Gertsen, Audrey L. Schroeder, Chin-To Fong, M. Anwar Iqbal, Bin Zhang
Publikováno v:
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-8 (2021)
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
Externí odkaz:
https://doaj.org/article/b2a64b3874e44e11b3c38aebdab1012f
