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A Review of Three Chinese Cases of Acromicric/Geleophysic Dysplasia with FBN1 Mutations

OBJECTIVE: This study aims to explore the clinical features and molecular diagnosis of FBN1-related acromelic dysplasia in Chinese patients. METHODS: The clinical and genetic features of three FBN1-related acromicric dysplasia (AD)/geleophysic dysplasia (GD) Chinese patients from two families were r...

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Detalles Bibliográficos
Autores principales:	Shan, Yan-Chun, Yang, Zhao-Chuan, Ma, Liang, Ran, Ni, Feng, Xue-Ying, Liu, Xiao-Mei, Fu, Peng, Yi, Ming-Ji
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Dove 2021
Materias:	Case Series
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8139683/ https://www.ncbi.nlm.nih.gov/pubmed/34040419 http://dx.doi.org/10.2147/IJGM.S306018

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