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.
Bunyan, David J
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. [electronic resource] - American journal of medical genetics. Part A Jun 2013 - 1329-38 p. digital
Publication Type: Journal Article
1552-4833
10.1002/ajmg.a.35919 doi
Adolescent
Base Sequence
Child
Child, Preschool
Cohort Studies
Dwarfism--genetics
Female
Follow-Up Studies
Genetic Association Studies
Genetic Testing
Genotype
Growth Disorders--genetics
Heterozygote
Homeodomain Proteins--genetics
Homozygote
Humans
Mutation
Osteochondrodysplasias--genetics
Pedigree
Phenotype
Sequence Deletion
Short Stature Homeobox Protein
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. [electronic resource] - American journal of medical genetics. Part A Jun 2013 - 1329-38 p. digital
Publication Type: Journal Article
1552-4833
10.1002/ajmg.a.35919 doi
Adolescent
Base Sequence
Child
Child, Preschool
Cohort Studies
Dwarfism--genetics
Female
Follow-Up Studies
Genetic Association Studies
Genetic Testing
Genotype
Growth Disorders--genetics
Heterozygote
Homeodomain Proteins--genetics
Homozygote
Humans
Mutation
Osteochondrodysplasias--genetics
Pedigree
Phenotype
Sequence Deletion
Short Stature Homeobox Protein