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Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia

BACKGROUND: Lethal fetal akinesia deformation sequence (FADS) describes a clinically and genetically heterogeneous phenotype that includes fetal akinesia, intrauterine growth retardation, arthrogryposis and developmental anomalies. Affected babies die as a result of pulmonary hypoplasia. We aimed to...

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Detalles Bibliográficos
Autores principales:	Watson, Christopher M, Crinnion, Laura A, Murphy, Helen, Newbould, Melanie, Harrison, Sally M, Lascelles, Carolina, Antanaviciute, Agne, Carr, Ian M, Sheridan, Eamonn, Bonthron, David T, Smith, Audrey
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2016
Materias:	New Loci
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4819622/ https://www.ncbi.nlm.nih.gov/pubmed/26733463 http://dx.doi.org/10.1136/jmedgenet-2015-103620

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