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Article

Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation.

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

Reschen Michael, Kini Usha, Hood Rebecca L, Boycott Kym M, Hurst Jane, O'Callaghan Christopher A

Abstract excerpt

Floating-Harbor syndrome (FHS) is a rare genetic disorder recently shown to be caused by mutations in the Snf2-related CREB-binding protein activator protein gene (SRCAP). It comprises three key clinical features of characteristic facies, expressive and receptive speech impairment and short stature. We report on a patient with this syndrome associated with early adult-onset hypertension and bilateral polycystic...

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Source

Identifiers

PMID: 23165645
DOI: 10.1002/ajmg.a.35635

Genes

SRCAP
PKD1
PKD2

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.

Related research

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Research trail→

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Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation.PMID 23165645Read ↗

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.Semantic proximity Read ↗

Perthes disease: A new finding in Floating-Harbor syndrome.Semantic proximity Read ↗

A Rare Cause of Proportional Short Stature and Puberty Precocity: Floating-Harbor SyndromeSemantic proximity Read ↗

Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature ReviewSemantic proximity Read ↗

Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation.Semantic proximity Read ↗

When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome.Semantic proximity Read ↗

Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndromeSemantic proximity Read ↗

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.Semantic proximity Read ↗

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.Semantic proximity Read ↗

Pediatric floating-harbor syndrome: clinical features and treatment outcomes in a cohort of Chinese children.Semantic proximity Read ↗

Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndromeSemantic proximity Read ↗

The carboxy‐terminus of the human ARPKD protein fibrocystin can control STAT3 signalling by regulating SRC‐activationSemantic proximity Read ↗

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