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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Baishideng Publishing Group Inc
2021
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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 |