Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype‐phenotype correlation analyses of TP63‐related disorders

BACKGROUND: 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 mutations have been reported to be associ...

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Publicado en:Mol Genet Genomic Med
Autores principales: Zheng, Jinglei, Liu, Haochen, Zhan, Yuan, Liu, Yang, Wong, Sing‐Wai, Cai, Tao, Feng, Hailan, Han, Dong
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2019
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Original Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6565570/
https://ncbi.nlm.nih.gov/pubmed/31050217
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.704
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