Article
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships.
Human mutation - 1 Jan 2007
Botta Elena, Offman Judith, Nardo Tiziana, Ricotti Roberta, Zambruno Giovanna, Sansone Daniela, Balestri Paolo, Raams Anja, Kleijer Wim J, Jaspers Nicolaas G J, Sarasin Alain, Lehmann Alan R, Stefanini Miria
Abstract excerpt
Trichothiodystrophy (TTD) is a rare autosomal recessive disorder whose defining feature is brittle hair. Associated clinical symptoms include physical and mental retardation of different severity, ichthyosis, premature aging, and, in half of the patients, photosensitivity. Recently, C7orf11 (TTDN1) was identified as the first disease gene for the nonphotosensitive form of TTD, being mutated in two unrelated cases...
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