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A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.

In spondylocostal dysostosis (SD), vertebral-segmentation defects are associated with rib anomalies. This results in short-trunk short stature, nonprogressive kyphoscoliosis, and radiological features of multiple hemivertebrae and rib fusions. SD can be familial, and both autosomal dominant and auto...

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Autors principals: Turnpenny, P D, Bulman, M P, Frayling, T M, Abu-Nasra, T K, Garrett, C, Hattersley, A T, Ellard, S
Format: Artigo
Idioma:Inglês
Publicat: 1999
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1378088/
https://ncbi.nlm.nih.gov/pubmed/10364530
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