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Metatropic Dysplasia of Nonlethal Variant in a Chinese Child – A Case Report

Metatropic dysplasia (MD), is a rare skeletal dysplasia occurring predominantly in infants characterized by a distinctive long torso and short limbs; it is as a result of mutations in the TRPV4 gene. However, a clear distinction between various forms of skeletal dysplasias caused by the transient re...

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Detalhes bibliográficos
Publicado no:Orthop Surg
Main Authors: Tchio Tchoumba, Michele A, Bai, Yan, Jin, Runming, Yu, Xianying, Male, Musa
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons Australia, Ltd 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7031589/
https://ncbi.nlm.nih.gov/pubmed/31808622
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/os.12546
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