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Article

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

American journal of medical genetics. Part A - 1 Mar 2014

Nagasaki Keisuke, Asami Tadashi, Sato Hidetoshi, Ogawa Yohei, Kikuchi Toru, Saitoh Akihiko, Ogata Tsutomu, Fukami Maki

Abstract excerpt

Floating-Harbor syndrome (FHS) is a rare autosomal dominant disorder characterized by short stature, skeletal malformations, speech delay, and dysmorphic facial appearance. Recently, mutations in SRCAP encoding a coactivator for cAMP-response element binding protein (CREB)-binding protein have been identified in small number of patients with FHS. Here, we report on long-term follow-up data of a male patient with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24375913
DOI: 10.1002/ajmg.a.36314

Genes

SRCAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation.PMID 24375913Read ↗

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 ↗

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

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

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

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

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

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

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

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

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

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

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