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A novel FGFR2 (S137W) mutation resulting in Apert syndrome: A case report

RATIONALE: Apert syndrome (AS) is an autosomal dominant inheritance pattern of the most severe craniosynostosis syndrome. AS is characterized by synostosis of cranial sutures and acrocephaly, including brachycephaly, midfacial hypoplasia, and syndactyly of the hands and feet. Patients with AS often...

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Detalles Bibliográficos
Autores principales:	Shi, Qingyang, Dai, Rulin, Wang, Ruixue, Jing, Jili, Yu, Xiaowei, Liu, Ruizhi, Liu, Yanhong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2020
Materias:	3500
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7523854/ https://www.ncbi.nlm.nih.gov/pubmed/32991447 http://dx.doi.org/10.1097/MD.0000000000022340

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