Condition: Cerebellar Hypoplasia


rs184953805 in ATRIP;TREX1;ATRIP-TREX1 gene and Cerebellar Hypoplasia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs78300695 in TREX1;ATRIP-TREX1;ATRIP gene and Cerebellar Hypoplasia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.