Split hand-split foot-ectodermal dysplasia and amelogenesis imperfecta with a TP63 mutation
We report on a mother and son who were affected with split hand-split foot (formerly described as ectrodactyly), ectodermal dysplasia, hyperpigmentation of skin, and dystrophic nails. Their hair was wiry, brownish, and slow-growing. Scanning electron micrography of their scalp hair showed hypoplasti...
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| 格式: | Article |
| 語言: | English |
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2014
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| 在線閱讀: | http://www.scopus.com/inward/record.url?eid=2-s2.0-80355139131&partnerID=40&md5=0f942b963a7e6d1e8a8a30586f2b43d7 http://www.ncbi.nlm.nih.gov/pubmed/22065540 http://cmuir.cmu.ac.th/handle/6653943832/1067 |
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