Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

The lymphedema-lymphangiectasia-intellectual disability (Hennekam) syndrome (HS) is characterised by a widespread congenital lymph vessel dysplasia manifesting as congenital lymphedema of the limbs and intestinal lymphangiectasia, accompanied by unusual facial morphology, variable intellectual disab...

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Detalhes bibliográficos
Main Authors: Alders, M., Mendola, A., Adès, L., Al Gazali, L., Bellini, C., Dallapiccola, B., Edery, P., Frank, U., Hornshuh, F., Huisman, S.A., Jagadeesh, S., Kayserili, H., Keng, W.T., Lev, D., Prada, C.E., Sampson, J.R., Schmidtke, J., Shashi, V., van Bever, Y., Van der Aa, N., Verhagen, J.M., Verheij, J.B., Vikkula, M., Hennekam, R.C.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2013
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3638933/
https://ncbi.nlm.nih.gov/pubmed/23653581
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000342486
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