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Article

Floating-Harbor Syndrome in a Korean Patient with Short Stature and Early Puberty: A Case Report

Journal of clinical research in pediatric endocrinology - 13 Mar 2026

Jeon Jooyoung, Noh Eu-seon, Hwang Il Tae

Abstract excerpt

Floating-Harbor syndrome (FHS) is a rare autosomal dominant genetic disorder characterized by proportionately short stature, lack of expressive language, and distinctive facial features, including a large nose, long eyelashes, deeply set eyes, and a triangular face. We present a case of an 11-year-old Korean girl who was initially suspected of having Noonan-like syndrome but was later diagnosed with FHS. The...

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Source

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Identifiers

PMID: 38230957
DOI: 10.4274/jcrpe.galenos.2024.2023-12-12
PMCID: PMC12989922

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.

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