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Title: ADULT syndrome : phenotype in a Brazilian family with the R298Q mutation
Authors: de Almeida, Hiram L.
van Steensel, Maurice A. M.
Rocha, Aroni
Caspary, Patrícia
Meijer, Rowdy
Keywords: Science::Medicine
Issue Date: 2019
Source: de Almeida, H. L., van Steensel, M. A. M., Rocha, A., Caspary, P. & Meijer, R. (2019). ADULT syndrome : phenotype in a Brazilian family with the R298Q mutation. International Journal of Dermatology, 58(3), e72-e75.
Journal: International Journal of Dermatology
Abstract: 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
ISSN: 0011-9059
DOI: 10.1111/ijd.14359
Rights: © 2019 The International Society of Dermatology. All rights reserved.
Fulltext Permission: none
Fulltext Availability: No Fulltext
Appears in Collections:LKCMedicine Journal Articles

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