trichothiodystrophy, photosensitive

An autosomal recessive disorder (OMIM:601675) characterised by sulphur-deficient brittle hair and nails, ichthyosis, mental retardation, impaired sexual development, abnormal facies, and photosensitivity linked to a defect in nucleotide excision repair. Neonates with trichothiodystrophy and ichthyosis are usually born with a collodion membrane; the severity of ichthyosis after the membrane is shed ranges from a mild to severe lamellar ichthyotic phenotype. Skin cancer is not associated with TTDP.
Molecular pathology
Caused by defects of ERCC2, which encodes a protein involved in nucleotide excision repair (NER) of DNA, by opening DNA around the site of DNA damage, and in RNA transcription.

单词	trichothiodystrophy, photosensitive
释义	trichothiodystrophy, photosensitive trichothiodystrophy, photosensitive An autosomal recessive disorder (OMIM:601675) characterised by sulphur-deficient brittle hair and nails, ichthyosis, mental retardation, impaired sexual development, abnormal facies, and photosensitivity linked to a defect in nucleotide excision repair. Neonates with trichothiodystrophy and ichthyosis are usually born with a collodion membrane; the severity of ichthyosis after the membrane is shed ranges from a mild to severe lamellar ichthyotic phenotype. Skin cancer is not associated with TTDP. Molecular pathology Caused by defects of ERCC2, which encodes a protein involved in nucleotide excision repair (NER) of DNA, by opening DNA around the site of DNA damage, and in RNA transcription. AcronymsSeeTTDP
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