CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
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DOI: 10.1016/j.ajhg.2017.08.003
Abstract: In five separate families, we identified nine individuals affected by a previously unidentified syndrome characterized by growth retardation, spine malformation, facial dysmorphisms, and developmental delays. Using homozygosity mapping, array CGH, and exome sequencing, we uncovered… read more here.
Keywords: retardation spine; developmental delays; growth retardation; cdk10 mutations ... See more keywords