TY  - GEN
AU  - Bunyan,David J
AU  - Baker,Kevin R
AU  - Harvey,John F
AU  - Thomas,N Simon
TI  - Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect
SN  - 1552-4833
PY  - 2016///0415
KW  - Adolescent
KW  - Base Sequence
KW  - Child
KW  - Child, Preschool
KW  - Cohort Studies
KW  - Dwarfism
KW  - genetics
KW  - Female
KW  - Follow-Up Studies
KW  - Genetic Association Studies
KW  - Genetic Testing
KW  - Genotype
KW  - Growth Disorders
KW  - Heterozygote
KW  - Homeodomain Proteins
KW  - Homozygote
KW  - Humans
KW  - Mutation
KW  - Osteochondrodysplasias
KW  - Pedigree
KW  - Phenotype
KW  - Sequence Deletion
KW  - Short Stature Homeobox Protein
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1002/ajmg.a.35919
ER  -