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Article

A Rare Cause of Proportional Short Stature and Puberty Precocity: Floating-Harbor Syndrome

Journal of clinical research in pediatric endocrinology - 22 May 2026

Çetinkaya Duygu, Büyükyılmaz Gönül, Kılıç Esra

Abstract excerpt

Floating-Harbor syndrome is a sporadic, autosomal dominantly-inherited, malformation syndrome characterized by typical craniofacial findings, proportional short stature, significantly delayed bone age, delayed expressive language, delayed speech, and normal head circumference. It is caused by heterozygous mutations in the SNF2-associated CBP activator protein gene (SRCAP) located on chromosome 16. Here, we report...

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Source

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Identifiers

PMID: 39311760
DOI: 10.4274/jcrpe.galenos.2024.2024-5-4
PMCID: PMC13197099

Genes

SRCAP

Variants

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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A Rare Cause of Proportional Short Stature and Puberty Precocity: Floating-Harbor SyndromePMID 39311760Read ↗

Floating-Harbor Syndrome in a Korean Patient with Short Stature and Early Puberty: A Case ReportSemantic proximity Read ↗

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

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

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

Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance.Semantic proximity Read ↗

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

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

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

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

Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndromeSemantic proximity Read ↗

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