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Article

A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred.

European journal of medical genetics - 1 Dec 2015

Pode-Shakked Ben, Marek-Yagel Dina, Greenberger Shoshana, Pode-Shakked Naomi, Pras Elon, Barzilai Aviv, Yassin Saeed, Sidi Yechezkel, Anikster Yair

Abstract excerpt

Trichothiodystrophy (TTD), also known as sulfur-deficient brittle hair syndrome, is a rare autosomal recessive multisystem disorder, which manifests with brittle hair, mental retardation, ichthyosis and decreased fertility. Mutations in the TTDN1 (C7orf11) gene have been shown to cause a nonphotosensitive type of trichothiodystrophy. We report of a 19 years old male, born to consanguineous parents of Arab-Muslim...

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PMID: 26518168
DOI: 10.1016/j.ejmg.2015.10.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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