Genetic variations in the DYNC2H1 gene causing SRTD3 (short-rib thoracic dysplasia 3 with or without polydactyly)
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DOI: 10.3389/fgene.2023.1125473
Abstract: Background and aims: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) represents a type of severe fetal skeletal dysplasia (SD) characterized by shortened limbs, narrow thorax with or without polydactyly, which is caused by… read more here.
Keywords: dysplasia; short rib; rib thoracic; gene ... See more keywords