Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.

doi:10.1086/428141

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Article

Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.

American journal of human genetics - 1 Mar 2005

Nakabayashi Kazuhiko, Amann Daniela, Ren Yan, Saarialho-Kere Ulpu, Avidan Nili, Gentles Simone, MacDonald Jeffrey R, Puffenberger Erik G, Christiano Angela M, Martinez-Mir Amalia, Salas-Alanis Julio C, Rizzo Renata, Vamos Esther, Raams Anja, Les Clifford, Seboun Eric, Jaspers Nicolaas G J, Beckmann Jacques S, Jackson Charles E, Scherer Stephen W

Abstract excerpt

We have identified C7orf11, which localizes to the nucleus and is expressed in fetal hair follicles, as the first disease gene for nonphotosensitive trichothiodystrophy (TTD). C7orf11 maps to chromosome 7p14, and the disease locus has been designated "TTDN1" (TTD nonphotosensitive 1). Mutations were found in patients with Amish brittle-hair syndrome and in other nonphotosensititive TTD cases with mental...

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PMID: 15645389
DOI: 10.1086/428141
PMCID: PMC1196401

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