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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Vydáno v:J Med Genet
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 2016
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4819622/
https://ncbi.nlm.nih.gov/pubmed/26733463
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2015-103620
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