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Geleophysic dysplasia caused by a mutation in FBN1: A case report

BACKGROUND: Geleophysic dysplasia (GD) presents the characterized clinical manifestations of acromelic dysplasia, including extremely short stature, short limbs, small hands and feet, stubby fingers and toes, joint stiffness and others. It is clinically distinct from the other acromelic dysplasia in...

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Detalles Bibliográficos
Autores principales: Tao, Ying, Wei, Qing, Chen, Xun, Nong, Guang-Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8409200/
https://www.ncbi.nlm.nih.gov/pubmed/34540975
http://dx.doi.org/10.12998/wjcc.v9.i24.7175