title: Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia.
authors.forename: S P
authors.initials: SP
authors.lastname: Robertson
authors.forename: D J
authors.initials: DJ
authors.lastname: Shears
authors.forename: P
authors.initials: P
authors.lastname: Oei
authors.forename: R M
authors.initials: RM
authors.lastname: Winter
authors.forename: P J
authors.initials: PJ
authors.lastname: Scambler
authors.forename: S
authors.initials: S
authors.lastname: Aftimos
authors.forename: R
authors.initials: R
authors.lastname: Savarirayan
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D017353:Gene Deletion; D005801:Genes, Homeobox; D018398:Homeodomain Proteins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree; D000074122:Short Stature Homeobox Protein
chemical_list: D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein