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Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

Stüve-Wiedemann syndrome is a rare autosomal recessive disorder characterized by bowed long bones, joint restrictions, dysautonomia, and respiratory and feeding difficulties, leading to death in the neonatal period and infancy in several occasions. Since the first cases in 1971, much has been learne...

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發表在:Mol Syndromol
Main Authors: Romeo Bertola, Débora, Honjo, Rachel S., Baratela, Wagner A.R.
格式: Artigo
語言:Inglês
出版: S. Karger AG 2016
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4862397/
https://ncbi.nlm.nih.gov/pubmed/27194968
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000444729
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