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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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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Mol Syndromol
Asıl Yazarlar: Romeo Bertola, Débora, Honjo, Rachel S., Baratela, Wagner A.R.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: S. Karger AG 2016
Konular:
Online Erişim: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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