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Article

Liver fibrocystic disease and polydactyly: proposal of a new syndrome.

American journal of medical genetics - 1 Jun 2001

Esmer C, Alvarez-Mendoza A, Lieberman E, Del Castillo V, Ridaura-Sanz C

Abstract excerpt

Liver fibrocystic disease (LFCD), characterized by dilatation of the intrahepatic bile ducts and variable degree of fibrosis, can be present alone or as part of many syndromes, such as Bardet-Biedl syndrome (BBS), Meckel syndrome, Jeune asphyxiating thoracic dysplasia, and Fraser-Jequier-Chen syndrome. We report two cases of LFCD and polydactyly with features similar, but not diagnostic of, BBS. Patient 1 was an...

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Identifiers

PMID: 11343330
DOI: 10.1002/ajmg.1314

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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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