A Novel Heterozygous Point Mutation in the p63 Gene in a Patient with Ectodermal Dysplasia Associated with B-Cell Leukemia
✍ Scribed by Miguel Cabanillas; Antonio Torrelo; Benigno Monteagudo; Oscar Suárez-Amor; Aquilina Ramírez-Santos; Daniel González-Vilas; Cristina de las Heras
- Book ID
- 109091326
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 227 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0736-8046
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## Abstract Lines of evidence have recently indicated a relationship between mutations in the __P63__ gene and ectrodactyly‐ectodermal dysplasia‐clefting (EEC) syndrome type 3 (EEC3). The p63 gene (__P63__) has homology to __P53__ known as a tumor‐suppressor gene, but biological function of its pro
## Abstract We report on an 18‐year‐old woman, born to first‐cousin parents, presenting with a severe form of anhydrotic ectodermal dysplasia (EDA/HED). She had sparse hair, absent limb hair, absent sweating, episodes of hyperpyrexia, important hypodontia, and hyperconvex nails. She also showed unu
## Abstract We investigated the presence of mutations in the pantothenate kinase (__PANK2__) gene in a 27‐year‐old male Chinese patient with atypical pantothenate kinase‐associated neurodegeneration (PKAN), formerly Hallervorden‐Spatz syndrome. Automated DNA sequence analyses revealed compound hete