atrichia with papular lesions

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atrichia with papular lesions2016-11-24T20:48:27+00:00

atrichia with papular lesions

DERMATOLOGY

Definition An autosomal recessive disorder (OMIM:209500) characterised by papules over most of the body and complete absence of hair.

Molecular pathology Defects of HR, which encodes a protein involved in hair growth, that functions as a transcription

corepressor of multiple nuclear receptors, including thyroid hormone receptor, the retinoic acid receptor-related orphan receptors and the vitamin D receptors, cause atrichia with papular lesions.

Synonym Papular atrichia 

References http://www.uniprot.org/uniprot/O43593

http://www.omim.org/entry/209500

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