Subcortical white matter abnormalities because of previously undescribed de-novo 14q12-q13.1 triplication.

Authors :: Rea G
Stallings RL
Mullarkey M
McKinstry CS
McManus D
Morrison PJ
Source :: Clinical dysmorphology [Clin Dysmorphol] 2013 Apr; Vol. 22 (2), pp. 71-72.
Publication Year :: 2013

Subjects :: Abnormalities, Multiple genetics
Abnormalities, Multiple pathology
Adolescent
Child
Chromosomes, Human, Pair 14 genetics
Comparative Genomic Hybridization
Developmental Disabilities genetics
Humans
Infant
Leukoencephalopathies pathology
Male
Radiography
Self-Injurious Behavior genetics
Tuberous Sclerosis Complex 1 Protein
Tumor Suppressor Proteins genetics
Brain diagnostic imaging
Leukoencephalopathies genetics
Trisomy genetics
Trisomy pathology

Full Text Access

Tools