Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669

Down syndrome (DS), the principal cause for intellectual disability, is also associated with hormonal, immunological, and gastrointestinal abnormalities. Muscle hypotonia (MH) and congenital heart diseases (CHD) are also frequently observed. Collagen molecules are essential components for maintainin...

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Autores principales: Dey, Arpita, Bhowmik, Krishnendu, Chatterjee, Arpita, Chakrabarty, Pit Baran, Sinha, Swagata, Mukhopadhyay, Kanchan
Formato: Artigo
Lenguaje:Inglês
Publicado: Frontiers Media S.A. 2013
Materias:
Genetics
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3631610/
https://ncbi.nlm.nih.gov/pubmed/23626599
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2013.00057
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