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A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature
BACKGROUND: Mutations in CCBE1 have been found to be responsible for a subset of families with autosomal recessive Hennekam syndrome. Hennekam syndrome is defined as the combination of generalized lymphatic dysplasia (ie. lymphedema and lymphangiectasia), variable intellectual disability and charact...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4630843/ https://www.ncbi.nlm.nih.gov/pubmed/25925991 http://dx.doi.org/10.1186/s12881-015-0175-0 |