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Article

Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.

Human mutation - 1 Jan 2013

Le Goff Carine, Mahaut Clémentine, Bottani Armand, Doray Berenice, Goldenberg Alice, Moncla Anne, Odent Sylvie, Nitschke Patrick, Munnich Arnold, Faivre Laurence, Cormier-Daire Valérie

Abstract excerpt

Floating-Harbor syndrome (FHS) is a rare disorder characterized by short stature, delayed bone age, speech delay, and dysmorphic facial features. We report here the molecular analysis of nine cases, fulfilling the diagnostic criteria for FHS. Using exome sequencing, we identified SRCAP as the disease gene in two cases and subsequently found SRCAP truncating mutations in 6/9 cases. All mutations occurred de novo...

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Source

Identifiers

PMID: 22965468
DOI: 10.1002/humu.22216

Genes

SRCAP

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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