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Functional Characterization of a Novel TP63 Mutation in a Family With Overlapping Features of Rapp-Hodgkin/AEC/ADULT Syndromes
Heterozygous mutations in TP63 cause a wide spectrum of autosomal dominant developmental disorders variably affecting skin, limbs, and face. TP63 encodes p63, a protein expressed in two main isoforms (Tap63 and ΔNp63) with critical roles in both cell differentiation and development. Some analyses su...
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| 主要な著者: | , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Wiley Subscription Services, Inc., A Wiley Company
2011
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3306552/ https://ncbi.nlm.nih.gov/pubmed/22069181 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.34335 |
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