Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia
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DOI: 10.1038/s41439-024-00290-z
Abstract: Type 2 spinal muscular atrophy with lower extremity dominance (SMALED2) is caused by bicaudal D cargo adaptor 2 (BICD2) variants. However, the SMALED2 genotype and phenotype correlation have not been thoroughly characterized. We identified de… read more here.
Keywords: missense bicd2; arthrogryposis; bicd2; bicd2 variants ... See more keywords