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Article

Perthes disease: A new finding in Floating-Harbor syndrome.

American journal of medical genetics. Part A - 1 Mar 2018

Milani Donatella, Scuvera Giulietta, Gatti Marta, Tolva Gianluca, Bonarrigo Francesca, Esposito Susanna, Gervasini Cristina

Abstract excerpt

Floating-Harbor Syndrome (FHS; OMIM #136140) is an ultra-rare autosomal dominant genetic condition characterized by expressive language delay, short stature with delayed bone mineralization, a triangular face with a prominent nose, and deep-set eyes, and hand anomalies. First reported in 1973, FHS is associated with mutations in the SRCAP gene, which encodes SNF2-related CREBBP activator protein. Mutations in the...

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Source

Identifiers

PMID: 29383823
DOI: 10.1002/ajmg.a.38605

Genes

CREBBP
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

Perthes disease: A new finding in Floating-Harbor syndrome.PMID 29383823Read ↗

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

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

Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.Semantic proximity Read ↗

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

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

Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report.Semantic proximity Read ↗

A Case of Floating-Harbor Syndrome with “Growth and Language Development Delay” as Its Clinical ManifestationSemantic proximity Read ↗

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

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