limb mammary syndrome

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limb mammary syndrome2016-11-26T21:23:56+00:00

limb mammary syndrome

GENETICS

Definition A presumably autosomal dominant condition (OMIM:603543) characterised by severe hand/foot anomalies and hypoplasia/aplasia of the mammary gland and nipple, less commonly, lacrimal-duct atresia, nail dysplasia, hypohidrosis, hypodontia, and cleft palate with or without bifid uvula.

Molecular pathology Defects of TP63, which encodes a p53 transcription factor that acts as a sequence specific DNA binding regulator of epithelial morphogenesis and required for limb formation from the apical ectodermal ridge, cause limb-mammary syndrome. 

References http://www.uniprot.org/uniprot/Q9H3D4

http://www.omim.org/entry/603543  

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