ALLMedicine™ Aec Syndrome Center
Research & Reviews 20 results
The Journal of Gene Medicine; Jin JY, Zeng L et. al.
Aug 20th, 2019 - Tumor protein p63 (TP63)-related disorders can be divided into at least six categories, including ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome 3 (EEC syndrome 3), ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC syn...
Molecular Genetics & Genomic Medicine; Zheng J, Liu H et. al.
May 3rd, 2019 - Ectrodactyly-Ectodermal dysplasia-Cleft lip/palate (EEC) syndrome and Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome belong to p63 syndromes, a group of rare disorders exhibiting a wide variety of clinical manifestations. TP63 ...
The Journal of Dermatology; Zhang Z, Cheng R et. al.
Feb 28th, 2019 - A Chinese female infant presented with ectodermal dysplasia, cleft palate and severe skin erosions at birth. Although all the typical clinical features of ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome were present, the ankyloblephar...
Proceedings of the National Academy of Sciences of the Un... Russo C, Osterburg C et. al.
Jan 18th, 2018 - The p63 gene encodes a master regulator of epidermal commitment, development, and differentiation. Heterozygous mutations in the C-terminal domain of the p63 gene can cause ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, a life...
American Journal of Medical Genetics. Part A; Khandelwal KD, Ockeloen CW et. al.
May 18th, 2017 - The cardinal features of Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate (EEC), and Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndromes are ectodermal dysplasia (ED), orofacial clefting, and limb anomalies. EEC and AEC are cau...