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Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence
Fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. FADS can result from mutations in CHRNG, CHRNA1, CHRND, DOK7 and RAPSN; however, these genes only account for a minorit...
Autores principales: | Tan-Sindhunata, M Brigita, Mathijssen, Inge B, Smit, Margriet, Baas, Frank, de Vries, Johanna I, van der Voorn, J Patrick, Kluijt, Irma, Hagen, Marleen A, Blom, Eveline W, Sistermans, Erik, Meijers-Heijboer, Hanne, Waisfisz, Quinten, Weiss, Marjan M, Groffen, Alexander J |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538208/ https://www.ncbi.nlm.nih.gov/pubmed/25537362 http://dx.doi.org/10.1038/ejhg.2014.273 |
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