Burrage, Lindsay C

A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14. [electronic resource] - American journal of medical genetics. Part A Apr 2013 - 841-4 p. digital

Publication Type: Case Reports; Journal Article

1552-4833

10.1002/ajmg.a.35751 doi


Adaptor Proteins, Signal Transducing--genetics
Adolescent
Chromosome Deletion
Chromosomes, Human, Pair 2
Comparative Genomic Hybridization
Dwarfism--genetics
Genetic Association Studies
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability--genetics
Male
Mosaicism
Phenotype
Proteasome Endopeptidase Complex--genetics
T-Box Domain Proteins--genetics
Trans-Activators--genetics