Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

doi:10.1086/379381

Article

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

American journal of human genetics - 1 Nov 2003

Burdon Kathryn P, McKay James D, Sale Michèle M, Russell-Eggitt Isabelle M, Mackey David A, Wirth M Gabriela, Elder James E, Nicoll Alan, Clarke Michael P, FitzGerald Liesel M, Stankovich James M, Shaw Marie A, Sharma Shiwani, Gajovic Srecko, Gruss Peter, Ross Shelley, Thomas Paul, Voss Anne K, Thomas Tim, Gécz Jozef, Craig Jamie E

Abstract excerpt

Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation. NHS has been mapped to a 1.3-Mb interval on Xp22.13. We have confirmed the same localization in the original, extended Australia...

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Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

Abstract excerpt

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