Article
Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes.
American journal of medical genetics. Part A - 1 Mar 2026
Haanpää Maria K, Haldeman-Englert Chad R, Hietala Marja, Tanverdi Melisa S, Koty Patrick P, Brightman Diana, Dosunmu Eniolami, Tibrewal Shailja, Kaur Savleen, Kaur Anupriya, Verma Raj Kumar, de Alba Campomanes Alejandra G, Utz Virginia, Slavotinek Anne M, Curry Cynthia
Abstract excerpt
Nance-Horan syndrome (NHS; OMIM 302350) is a rare, X-linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade-shaped incisors, facial anomalies, and intellectual disability. It is caused by deleterious loss of function variants or deletions involving the NHS gene at Xp22.13. Heterozygous females often...
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