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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sg-ntu-dr.10356-1470512021-03-19T05:27:21Z ADULT syndrome : phenotype in a Brazilian family with the R298Q mutation de Almeida, Hiram L. van Steensel, Maurice A. M. Rocha, Aroni Caspary, Patrícia Meijer, Rowdy Lee Kong Chian School of Medicine (LKCMedicine) Science::Medicine Acro‐dermo‐ungual‐lacrimal‐tooth syndrome Genetic Disorder 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 2021-03-19T05:23:26Z 2021-03-19T05:23:26Z 2019 Journal Article 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. https://dx.doi.org/10.1111/ijd.14359 0011-9059 https://hdl.handle.net/10356/147051 10.1111/ijd.14359 30656674 2-s2.0-85060194706 3 58 e72 e75 en International Journal of Dermatology © 2019 The International Society of Dermatology. All rights reserved. |
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Science::Medicine Acro‐dermo‐ungual‐lacrimal‐tooth syndrome Genetic Disorder |
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Science::Medicine Acro‐dermo‐ungual‐lacrimal‐tooth syndrome Genetic Disorder de Almeida, Hiram L. van Steensel, Maurice A. M. Rocha, Aroni Caspary, Patrícia Meijer, Rowdy ADULT syndrome : phenotype in a Brazilian family with the R298Q mutation |
| description |
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 |
| author2 |
Lee Kong Chian School of Medicine (LKCMedicine) |
| author_facet |
Lee Kong Chian School of Medicine (LKCMedicine) de Almeida, Hiram L. van Steensel, Maurice A. M. Rocha, Aroni Caspary, Patrícia Meijer, Rowdy |
| format |
Article |
| author |
de Almeida, Hiram L. van Steensel, Maurice A. M. Rocha, Aroni Caspary, Patrícia Meijer, Rowdy |
| author_sort |
de Almeida, Hiram L. |
| title |
ADULT syndrome : phenotype in a Brazilian family with the R298Q mutation |
| title_short |
ADULT syndrome : phenotype in a Brazilian family with the R298Q mutation |
| title_full |
ADULT syndrome : phenotype in a Brazilian family with the R298Q mutation |
| title_fullStr |
ADULT syndrome : phenotype in a Brazilian family with the R298Q mutation |
| title_full_unstemmed |
ADULT syndrome : phenotype in a Brazilian family with the R298Q mutation |
| title_sort |
adult syndrome : phenotype in a brazilian family with the r298q mutation |
| publishDate |
2021 |
| url |
https://hdl.handle.net/10356/147051 |
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1696984367868411904 |