Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63

A patient who had ectrodactyly, dry skin, exfoliative dermatitis, and hypodontia with peg-shaped teeth, but not cleft lip and palate, is described. Ectrodactyly with a tooth anomaly is recognized in both acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome and ectrodactyly-ectodermal dysplasia-cleft...

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Detalles Bibliográficos
Autores principales: Otsuki, Yuki, Ueda, Koichi, Satoh, Chisei, Maekawa, Ryuta, Yoshiura, Koh-ichiro, Iseki, Sachiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5222673/
https://www.ncbi.nlm.nih.gov/pubmed/28293528
http://dx.doi.org/10.1097/GOX.0000000000001185

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5222673/
https://www.ncbi.nlm.nih.gov/pubmed/28293528
http://dx.doi.org/10.1097/GOX.0000000000001185

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