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Article

The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene.

Journal of Korean medical science - 1 Apr 2007

Eun So-Hee, Ha Ki Ssu, Je Bo-Kyung, Lee Eung Seok, Choi Byung Min, Lee Jung Hwa, Eun Baik-Lin, Yoo Kee Hwan

Abstract excerpt

Here we report the first case of a Korean infant with a cloverleaf-shaped craniosynostosis, in which the diagnosis of Beare-Stevenson syndrome was suspected upon observation of the typical morphological features. This infant exhibited craniofacial anomalies, ocular proptosis, cutis gyrata, acanth...

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Share to Abnormalities, Multiple
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Infant, Newborn

Share to Receptor, Fibroblast Growth Factor, Type 2

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Source

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Identifiers

PMID: 17449949
DOI: 10.3346/jkms.2007.22.2.352
PMCID: PMC2693607

Genes

FGFR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-17449949-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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