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Clinical assessment and FGFR2 mutation analysis in a Chinese family with Crouzon syndrome: A case report

RATIONALE: Crouzon syndrome is an autosomal dominant genetic disorder caused by mutations in fibroblast growth factor receptor 2 (FGFR2) and one of the most common types of craniosynostosis. Here we report the detection of FGFR2 mutation and its related clinical findings in 2 patients with Crouzon s...

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Detalles Bibliográficos
Autores principales:	Shi, Huijun, Yang, Jie, Guo, Qingmin, Zhang, Minglian
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2021
Materias:	3500
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7969214/ https://www.ncbi.nlm.nih.gov/pubmed/33725872 http://dx.doi.org/10.1097/MD.0000000000024991

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