Das Hennekam-Syndrom ist eine heterogene autosomal rezessive Erkrankung, die durch Lymphödem bei Lymphangioektasie und geistige Retardierung gekennzeichnet ist.
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Hennekam RC et al. (1989) Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. |
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Al-Gazali LI et al. (2003) Further delineation of Hennekam syndrome. |
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Alders M et al. (2014) Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. |
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Connell F et al. (2010) Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. |
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Alders M et al. (2009) Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. |
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Yasunaga M et al. (1993) Protein-losing gastroenteropathy with facial anomaly and growth retardation: a mild case of Hennekam syndrome. |
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Scarcella A et al. (2000) Early death in two sisters with Hennekam syndrome. |
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Forzano F et al. (2002) Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype. |
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Van Balkom ID et al. (2002) Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review. |
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Bellini C et al. (2003) Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia. |
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Orphanet article Orphanet ID 2136 |
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Wikipedia Artikel Wikipedia DE (Hennekam-Syndrom) |