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Article

Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34.

Clinical genetics - 1 May 2014

Kehrer M, Beckmann A, Wyduba J, Finckh U, Dufke A, Gaiser U, Tzschach A

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23763483
DOI: 10.1111/cge.12199

Genes

SRCAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34.PMID 23763483Read ↗

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

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

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

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

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

Generation of an iPSC line (UMGWi001-B) from a patient with Floating-Harbor Syndrome (FLHS) carrying a heterozygous SRCAP mutation (p.Arg2444).Semantic 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 ↗

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

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

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

The phenotype of Floating-Harbor syndrome in 10 patients.Semantic proximity Read ↗

Floating-Harbor syndrome: case report and craniofacial phenotype characterization.Semantic proximity Read ↗

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