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TP63‐mutation as a cause of prenatal lethal multicystic dysplastic kidneys

BACKGROUND: Ectrodactyly‐ectodermal dysplasia‐clefting syndrome 3 (EEC) is one of the six overlapping syndromes caused by mutations in the tumor protein p63 gene (TP63). EEC is suspected when patients have cleft hands or feet, polydactyly, and syndactyly, abnormal development of the ectodermally der...

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Detalles Bibliográficos
Autores principales: Friedmann, Isabel, Campagnolo, Carla, Chan, Nancy, Hardy, Ghislain, Saleh, Maha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667318/
https://www.ncbi.nlm.nih.gov/pubmed/32881366
http://dx.doi.org/10.1002/mgg3.1486