Kamien, Benjamin

Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy. [electronic resource] - American journal of medical genetics. Part A Mar 2014 - 782-8 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1552-4833

10.1002/ajmg.a.36345 doi


Child Behavior Disorders--diagnosis
Child Development Disorders, Pervasive--diagnosis
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 15
Comparative Genomic Hybridization
Epilepsy--diagnosis
Facies
Haplotypes
Humans
Linkage Disequilibrium
Male
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Sialyltransferases--genetics