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...

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Detalles Bibliográficos
Autores principales: Frosk, Patrick, Chodirker, Bernard, Simard, Louise, El-Matary, Wael, Hanlon-Dearman, Ana, Schwartzentruber, Jeremy, Majewski, Jacek, Rockman-Greenberg, Cheryl
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
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

Internet

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

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