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

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
Subjects:
Science::Medicine
Acro‐dermo‐ungual‐lacrimal‐tooth syndrome
Genetic Disorder
Online Access:https://hdl.handle.net/10356/147051
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Institution: Nanyang Technological University
Language: English
Description
Summary: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), Ectrodactyly‐Ectodermal dysplasia‐cleft lip/palate (EEC) syndrome, Limb‐mammary syndrome (LMS), Split‐hand/foot malformation (SHFM), isolated cleft lip/palate and Acro‐dermo‐ungual‐lacrimal‐tooth (ADULT) syndrome.3-6

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