Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

Congenital muscular dystrophies display a wide phenotypic and genetic heterogeneity. The combination of clinical, biochemical, and molecular genetic findings must be considered to obtain the precise diagnosis and provide appropriate genetic counselling. Here we report five individuals from four fami...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Osborn, Daniel P.S., Pond, Heather L., Mazaheri, Neda, Dejardin, Jeremy, Munn, Christopher J., Mushref, Khaloob, Cauley, Edmund S., Moroni, Isabella, Pasanisi, Maria Barbara, Sellars, Elizabeth A., Hill, R. Sean, Partlow, Jennifer N., Willaert, Rebecca K., Bharj, Jaipreet, Malamiri, Reza Azizi, Galehdari, Hamid, Shariati, Gholamreza, Maroofian, Reza, Mora, Marina, Swan, Laura E., Voit, Thomas, Conti, Francesco J., Jamshidi, Yalda, Manzini, M. Chiara
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5339112/
https://ncbi.nlm.nih.gov/pubmed/28190459
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.01.019
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