Condition: Abnormality of the periventricular white matter


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

rs1135401778 in BPTF gene and Abnormality of the periventricular white matter PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

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