limb-mammary syndrome

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
Caused by defects of TP63, which encodes a p53 transcription factor that acts as a sequence-specific DNA-binding regulator of epithelial morphogenesis, required for limb formation from the apical ectodermal ridge.

单词	limb-mammary syndrome
释义	limb-mammary syndrome limb-mammary syndrome 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 Caused by defects of TP63, which encodes a p53 transcription factor that acts as a sequence-specific DNA-binding regulator of epithelial morphogenesis, required for limb formation from the apical ectodermal ridge. AcronymsSeeLMS
随便看	gregor johann mendel gregor lusavoric gregor mendel gregorovius, ferdinand gregor piatigorsky gregor-tajovsky, josef gregor-tajovský, josef gregor von nazianz gregory gregory alan maddux gregory, bishop of tours gregory county gregory county, sd gregory county, south dakota gregory, cynthia gregory de tours gregory, dick gregory formula gregory goodwin pincus gregory, herbert gregory, horace gregory i gregory ii, saint gregory i of constantinople gregory, isabella augusta