Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene
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DOI: 10.1016/j.nmd.2017.01.013
Abstract: Fetal akinesia deformation sequence is a clinically and genetically heterogeneous disorder characterized by a variable combination of fetal akinesia, intrauterine growth restriction, developmental abnormalities such as cystic hygroma, hydrops fetalis, pulmonary hypoplasia, occasional arthrogryposis, and… read more here.
Keywords: fetal akinesia; lethal multiple; nebulin gene; multiple pterygium ... See more keywords