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Article

Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome.

American journal of medical genetics. Part A - 1 Oct 2016

Crawford Joanna, Bower Neil I, Hogan Benjamin M, Taft Ryan J, Gabbett Michael T, McGaughran Julie, Simons Cas

Abstract excerpt

Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder, with 25% of patients having mutations in CCBE1. We identified a family with two brothers presenting with primary lymphedema, and performed exome sequencing to determine the cause of their disease. Analysis of four family members showed that both affected brothers had the same rare compound heterozygous mutations in CCBE1. The...

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Source

Identifiers

PMID: 27345729
DOI: 10.1002/ajmg.a.37803

Genes

CCBE1

Variants

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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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Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome.PMID 27345729Read ↗

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