hypotrichosis 4

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hypotrichosis 42016-11-26T06:09:31+00:00

hypotrichosis 4

DERMATOLOGY

Definition An autosomal dominant condition (OMIM:146550) characterised by reduced amount of hair, alopecia, little or no eyebrows, eyelashes or body hair, and coarse, wiry, twisted hair in early childhood

Molecular pathology Defects of HR, which encodes a protein involved in hair growth, that acts as a transcription corepressor of multiple nuclear receptors, cause hypotrichosis 4. 

Synonym Hypotrichosis—Marie Unna type—1, Marie-Unna hereditary hypotrichosis 1, MUHH1 

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

http://www.omim.org/entry/146550

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