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Article

CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.

PloS one - 1 Jan 2013

Shah Sohela, Conlin Laura K, Gomez Luis, Aagenaes Øystein, Eiklid Kristin, Knisely A S, Mennuti Michael T, Matthews Randolph P, Spinner Nancy B, Bull Laura N

Abstract excerpt

BACKGROUND: Lymphedema-cholestasis syndrome (LCS; Aagenaes syndrome) is a rare autosomal recessive disorder, characterized by 1) neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and 2) severe chronic lymphedema, mainly lower limb. LCS was originally described in a Norwegian kindred in which a locus, LCS1, was mapped to a 6.6cM region on chromosome 15. Mutations in CCBE1 on...

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Identifiers

PMID: 24086631
DOI: 10.1371/journal.pone.0075770
PMCID: PMC3784396

Genes

CCBE1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.PMID 24086631Read ↗

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