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Article

When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome.

Journal of medical genetics - 1 Dec 2016

Messina Giovanni, Atterrato Maria Teresa, Dimitri Patrizio

Abstract excerpt

Floating-Harbor syndrome (FHS) is a rare human disease characterised by delayed bone mineralisation and growth deficiency, often associated with mental retardation and skeletal and craniofacial abnormalities. FHS was first described at Boston's Floating Hospital 42 years ago, but the causative gene, called Srcap, was identified only recently. Truncated SRCAP protein variants have been implicated in the mechanism...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27208210
DOI: 10.1136/jmedgenet-2016-103842

Genes

SRCAP

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→

Click a neighbor to travelStep 1 · 12 closest

When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome.PMID 27208210Read ↗

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 ↗

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

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

ATPase SRCAP is a new player in cell division, uncovering molecular aspects of Floating-Harbor syndromeSemantic proximity Read ↗

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

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

The defining DNA methylation signature of Floating-Harbor SyndromeSemantic proximity Read ↗

A Rare Cause of Proportional Short Stature and Puberty Precocity: 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 ↗

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

Generation of two tetracycline-inducible NGN2 iN iPSC lines carrying a heterozygous floating-Harbor syndrome SRCAP truncating mutation.Semantic proximity Read ↗

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