Prenatal diagnosis of recurrent moderate skeletal dysplasias in lamin B receptors
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DOI: 10.3389/fgene.2022.1020475
Abstract: The lamin B receptor (LBR) gene is located in chromosome 1q42.12 and encodes the lamin B receptor, an intracellular protein that binds to lamin B. LBR mutations are associated with a broad phenotypic spectrum ranging… read more here.
Keywords: lamin; gene; skeletal dysplasias; prenatal diagnosis ... See more keywords