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Article

Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis.

American journal of medical genetics. Part A - 15 Aug 2003

Vargas Rosa Andrea Pardo, Maegawa Gustavo Henrique Boff, Taucher Silvia Castillo, Leite Júlio César L, Sanz Patricia, Cifuentes Juan, Parra Mauro, Muñoz Hernán, Maranduba Carlos Magno, Passos-Bueno Maria R

Abstract excerpt

We report two patients with Beare-Stevenson syndrome. This syndrome presents craniosynostosis with or without clover-leaf skull, craniofacial anomalies, cutis gyrata, acanthosis nigricans, prominent umbilical stump, furrowed palms and soles, genital and anal anomalies. Both female newborn patients presented at birth with craniofacial anomalies, variable cutis gyrata in forehead and preauricular regions, prominent...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12900900
DOI: 10.1002/ajmg.a.20101

Genes

FGFR2

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.

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