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SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy

6 May 2019

Abstract excerpt

Fetal akinesia deformation sequence (FADS) and lethal multiple pterygium syndrome (LMPS) are clinically overlapping syndromes manifesting with reduced or absent fetal movement, arthrogryposis, and several anomalies during fetal life. The etiology of these syndromes is heterogeneous, and in many cases it remains unknown. In order to determine the genetic etiology of FADS in two fetuses with fetal akinesia,...

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Share to Cerebral Palsy and Movement Disorders
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PMID: 31059209
DOI: 10.1002/ajmg.a.61186

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