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

• 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
• Institution: Nanyang Technological University

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...