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GENATLAS PHENOTYPE

last update : 24-02-2015

Symbol	TTDP2
Location	2q14.3
Name	trichothiodystrophy photosensitive 2
Corresponding gene	ERCC3
Main clinical features	brittle hair and nails (because of reduced content of cysteine-rich matrix proteins), ichthyotic skin, and physical and mental retardation no cases of skin cancer had been reported with trichothiodystrophy approximately half of the patients display photosensitivity, correlated with a nucleotide excision repair (NER) defect
Genetic determination	autosomal recessive
Function/system disorder	dermatology
	mental retardation
Type	disease

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