ADULT syndrome : phenotype in a Brazilian family with the R298Q mutation

Transcription factor p63 is important for embryonic regulation of ectodermal, orofacial, and limb development.1 Mutations in the p63 gene are associated with six overlapping phenotypes:2 Ankyloblepharon‐ectodermal defects‐cleft lip/palate (AEC) syndrome (including Rapp‐Hodgkin syndrome), Ectrodactyl...

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Bibliographic Details
Main Authors: de Almeida, Hiram L., van Steensel, Maurice A. M., Rocha, Aroni, Caspary, Patrícia, Meijer, Rowdy
Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
Format: Article
Language:English
Published: 2021
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Online Access:https://hdl.handle.net/10356/147051
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Institution: Nanyang Technological University
Language: English

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