EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report

RATIONALE: Ectrodactyly ectodermal dysplasia-cleft lip/palate (EEC) syndrome, limb-mammary syndrome (LMS), and acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome are caused by a TP63 gene disorder and have similar features. In the present article, a R319H mutation in TP63 is reported, and the corre...

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Detalles Bibliográficos
Autores principales: Otsuki, Yuki, Ueda, Koichi, Nuri, Takashi, Satoh, Chisei, Maekawa, Ryuta, Yoshiura, Koh-ichiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2020
Materias:
3500
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7598809/
https://www.ncbi.nlm.nih.gov/pubmed/33126320
http://dx.doi.org/10.1097/MD.0000000000022816

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7598809/
https://www.ncbi.nlm.nih.gov/pubmed/33126320
http://dx.doi.org/10.1097/MD.0000000000022816

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