Trichothiodystrophy in a child with occult learning disorder

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Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light.

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Trichothiodystrophy, a Human DNA Repair Disorder with Heterogeneity in the Cellular Response to Ultraviolet Light1

Trichothiodystrophy (I'll)) is an autosomal recessive disorder char acterized by brittle hair with reduced sulfur content, ichthyosis, peculiar face, and mental and physical retardation. Some patients are photosen sitive. A previous study by Stefanini et al. (Hum. Genet., 74: 107-112, 1986) showed that cells from four photosensitive patients with I'll) had a molecular defect in DNA repair, whic...

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ژورنال

عنوان ژورنال: International Journal of Trichology

سال: 2013

ISSN: 0974-7753

DOI: 10.4103/0974-7753.114717