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ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6)

Lethal congenital contracture syndrome (LCCS) is a lethal autosomal recessive form of arthrogryposis multiplex congenita (AMC). LCCS is genetically heterogeneous with mutations in five genes identified to date, all with a role in the innervation or contractile apparatus of skeletal muscles. In a con...

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Dades bibliogràfiques
Publicat a:Hum Mol Genet
Autors principals: Patel, Nisha, Smith, Laura L., Faqeih, Eissa, Mohamed, Jawahir, Gupta, Vandana A., Alkuraya, Fowzan S.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2014
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4240208/
https://ncbi.nlm.nih.gov/pubmed/25055871
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu384
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