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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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| Udgivet i: | Mol Syndromol |
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| Main Authors: | , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
S. Karger AG
2016
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| 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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