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

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

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.

Afiliação

Alders M; Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

Mol Syndromol ; 4(3): 107-13, 2013 Mar.

Article em En | MEDLINE | ID: mdl-23653581

Palavras-chave

Autosomal recessive; CCBE1; Genotype-phenotype; Hennekam syndrome; Lymphangiectasia; Lymphatic dysplasia; Lymphedema

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2013 Tipo de documento: Article

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2013 Tipo de documento: Article