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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...
Autores principales: | Friedmann, Isabel, Campagnolo, Carla, Chan, Nancy, Hardy, Ghislain, Saleh, Maha |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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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 |
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