De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.

Dennert, Nicola

De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. [electronic resource] - American journal of medical genetics. Part A Feb 2017 - 435-443 p. digital

Publication Type: Case Reports; Journal Article; Review

1552-4833

10.1002/ajmg.a.38034 doi


Brain--abnormalities
Child, Preschool
Comparative Genomic Hybridization
Exome
Eye Abnormalities--diagnosis
Facies
Female
Genetic Association Studies
High-Throughput Nucleotide Sequencing
Humans
Infant, Newborn
Intellectual Disability--diagnosis
Magnetic Resonance Imaging--methods
Male
Phenotype
Point Mutation
Polymorphism, Single Nucleotide
Registries
SOXB1 Transcription Factors--genetics
Sequence Deletion