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XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D
(OMIM ID: #278730 )

Known also as: * TRICHOTHIODYSTROPHY WITH SUN SENSITIVITY, INCLUDED * TRICHOTHIODYSTROPHY, TYPE 1, INCLUDED; TTD1, INCLUDED * XERODERMA PIGMENTOSUM VIII, FORMERLY; XP8, FORMERLY * XP, GROUP H, FORMERLY; XPH, FORMERLY


Linkage of trichothiodystrophy (TTD) and xeroderma pigmentosum of complementation group D was suggested by Nuzzo et al. (1986) on the basis of 3 Italian families in which 4 persons had the 2 disorders. Study of surnames and genealogies suggested that the 3 sibships probably had a common ancestral couple. The characteristics of the TTD were hair shaft abnormalities, ichthyosis, immature sexual development, short stature, and peculiar facies. It may be the disorder called Tay syndrome (see 601675). The form in the same complementation group as XPD might be referred to as TTD1.


DNA repair proteins related with XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D (#278730 ) disease:
Following keywords are related to XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D:

Last modification of this entry: Oct. 19, 2010.

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