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Article

Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.

Human genetics - 1 Feb 2010

Connell Fiona, Kalidas Kamini, Ostergaard Pia, Brice Glen, Homfray Tessa, Roberts Lesley, Bunyan David J, Mitton Sally, Mansour Sahar, Mortimer Peter, Jeffery Steve

Abstract excerpt

Generalised lymphatic dysplasia (GLD) is characterised by extensive peripheral lymphoedema with visceral involvement. In some cases, it presents in utero with hydrops fetalis. Autosomal dominant and recessive inheritance has been reported. A large, non-consanguineous family with three affected siblings with generalised lymphatic dysplasia is presented. One child died aged 5 months, one spontaneously miscarried at...

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Source

Identifiers

PMID: 19911200
DOI: 10.1007/s00439-009-0766-y

Genes

CCBE1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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