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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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Bibliografiske detaljer
Udgivet i:Mol Syndromol
Main Authors: Romeo Bertola, Débora, Honjo, Rachel S., Baratela, Wagner A.R.
Format: Artigo
Sprog:Inglês
Udgivet: S. Karger AG 2016
Fag:
Online adgang: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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