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Article

Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.

American journal of medical genetics. Part A - 1 Feb 2012

Lopez Estelle, Callier Patrick, Cormier-Daire Valérie, Lacombe Didier, Moncla Anne, Bottani Armand, Lambert Sandy, Goldenberg Alice, Doray Bérénice, Odent Sylvie, Sanlaville Damien, Gueneau Lucie, Duplomb Laurence, Huet Frédéric, Aral Bernard, Thauvin-Robinet Christel, Faivre Laurence

Abstract excerpt

Floating-Harbor syndrome (FHS) is characterized by characteristic facial dysmorphism, short stature with delayed bone age, and expressive language delay. To date, the gene(s) responsible for FHS is (are) unknown and the diagnosis is only made on the basis of the clinical phenotype. The majority of cases appeared to be sporadic but rare cases following autosomal dominant inheritance have been reported. We...

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Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 12

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Craniofacial Abnormalities

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Source

Identifiers

PMID: 22247066
DOI: 10.1002/ajmg.a.34401

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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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