Hydrops, Arthrogryposis, and Cerebellar Hypoplasia in a Fetus With a de Novo BICD2 Variant: Expanding the Prenatal Phenotype of SMALED2B.
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DOI: 10.1002/pd.70024
Abstract: Summary What is already known about this topic?◦ BICD2 variants are associated with spinal muscular atrophy, lower extremity predominant type 2, typically diagnosed postnatally or after fetal demise.◦ Prenatal presentations may include arthrogryposis multiplex congenita,… read more here.
Keywords: hydrops arthrogryposis; bicd2 variant; cerebellar hypoplasia; fetus ... See more keywords