Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation.

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作者： Rosario,Ramos Mejía ^[1] ; Miriam,Aza-Carmona ^[2] ; Mariana,Del Pino ^[3] ; Karen E,Heath ^[4] ; Virginia,Fano ^[1] ; Maria Gabriela,Obregon ^[2]

作者单位： Department of Growth and Development, Hospital Garrahan, Buenos Aires, Argentina. ^[1] Institute of Medical and Molecular Genetics (INGEMM), Madrid, Spain. ^[2] Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, UAM, IdiPAZ, Madrid, Spain. ^[3] CIBERER, ISCIII, Madrid, Spain. ^[4] Department of Genetics, Hospital Garrahan, Buenos Aires, Argentina. ^[5]

关键词 FGFR3 body disproportion hypochondroplasia

DOI 10.1055/s-0039-1695056

PMID 31976144

发布时间 2021-03-02

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Journal of pediatric genetics

2020年9卷1期

48-52页

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Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation.

Journal of pediatric genetics

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Journal of pediatric genetics

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Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation.

Journal of pediatric genetics

相似文献

Journal of pediatric genetics

相关期刊

检索历史清除