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.