branchiooculofacial syndrome

An extremely rare autosomal dominant cleft palate craniofacial disorder (OMIM:113620) with variable expression, characterised by cutaneous anomalies, ocular anomalies (e.g., microphthalmia and lacrimal duct obstruction), characteristic facies (malformed pinnae), oral clefts and, less commonly, renal and ectodermal (dental and hair) defects.
Molecular pathology
Caused by defects of TFAP2A, which encodes a transcription factor involved in proper eye, face, body wall, limb and neural tube development.

单词	branchiooculofacial syndrome
释义	branchiooculofacial syndrome branchiooculofacial syndrome An extremely rare autosomal dominant cleft palate craniofacial disorder (OMIM:113620) with variable expression, characterised by cutaneous anomalies, ocular anomalies (e.g., microphthalmia and lacrimal duct obstruction), characteristic facies (malformed pinnae), oral clefts and, less commonly, renal and ectodermal (dental and hair) defects. Molecular pathology Caused by defects of TFAP2A, which encodes a transcription factor involved in proper eye, face, body wall, limb and neural tube development.
随便看	total remaining exposure total remote site total renal vascular resistance total renewable water resources total renin activity total repair cost management total request live total reserves total residual chlorine total residue total resource cost total resource inventory total retinal blood flow total retirement outsourcing total retrieval time total return total return fixed annuities total return for calendar year total return index total return indexes total return indices total return on investment total returns total returns for calendar year total return swap