Null variants in AGRN cause lethal fetal akinesia deformation sequence
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DOI: 10.1111/cge.13677
Abstract: We present a case of lethal fetal akinesia deformation sequence (FADS) caused by a frameshift variant in trans with a 148 kbp deletion encompassing 3‐36 exons of AGRN. Pathogenic variants in AGRN have been described… read more here.
Keywords: fetal akinesia; lethal fetal; variants agrn; akinesia deformation ... See more keywords