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GENATLAS PHENOTYPE

last update : 05-04-2016

Symbol	TTDRP
Location	8p12
Name	DNA Repair-Proficient Trichothiodystrophy
Corresponding gene	GTF2E2
Main clinical features	non-photosensitive children with TTD, hair tiger-tail banding, short stature microcephaly, developmental delay, happy personality
Genetic determination	autosomal recessive
Function/system disorder	dermatology
	mental retardation
Type	disease

Remark(s)

importance of the direct interaction betweenGTF2H and GTF2E in the transcription process leading to a TTD clinical phenotype (PMID: 26996949))