Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia.
Robertson
S P
SP
Shears
D J
DJ
Oei
P
P
Winter
R M
RM
Scambler
P J
PJ
Aftimos
S
S
Savarirayan
R
R
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
D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein