Likely pathogenic variant in the BICD2 gene in fetus presenting with non-immune hydrops.
Sign Up to like & getrecommendations! Published in 2023 at "Prenatal diagnosis"
DOI: 10.1002/pd.6386
Abstract: Trio exome sequencing was performed on a fetus presenting with severe hydrops fetalis at 21+0 weeks gestation. A novel de novo BICD2 missense variant was identified in the fetus. Pathogenic variants in the BICD2 gene… read more here.
Keywords: bicd2 gene; pathogenic variant; variant; fetus presenting ... See more keywords
SMALED2 with BICD2 gene mutations: Report of two cases and portrayal of a classical phenotype
Sign Up to like & getrecommendations! Published in 2020 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2020.05.009
Abstract: The spinal muscular atrophies (SMA) affect lower motor neurons leading to important muscle atrophy and paralysis. Some cases of SMA affect mostly the lower limbs and are called autosomal dominant spinal muscular atrophy, lower extremity… read more here.
Keywords: phenotype; gene mutations; bicd2 gene; mutations report ... See more keywords