Snijders Blok, Charlotte

Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes. [electronic resource] - American journal of medical genetics. Part A Nov 2014 - 2843-8 p. digital

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

1552-4833

10.1002/ajmg.a.36680 doi


22q11 Deletion Syndrome--diagnosis
Adolescent
Adult
CHARGE Syndrome--diagnosis
Child
Child, Preschool
Chromosome Deletion
Chromosome Disorders--diagnosis
Chromosome Mapping
Chromosomes, Human, Pair 5
Comparative Genomic Hybridization
Diagnosis, Differential
Facies
Female
Genetic Association Studies
Humans
Infant
Male
Phenotype
Young Adult