Burnside, Rachel D

Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype. [electronic resource] - American journal of medical genetics. Part A Apr 2013 - 822-8 p. digital

Publication Type: Case Reports; Journal Article

1552-4833

10.1002/ajmg.a.35699 doi


Abnormalities, Multiple--genetics
Adult
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 8
Facies
Female
GATA4 Transcription Factor--genetics
Genome-Wide Association Study
Heart Defects, Congenital--diagnosis
Humans
Male
Microsatellite Repeats
Phenotype
Polymorphism, Single Nucleotide
User-Computer Interface