The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia.
Bertorelli
R
R
Capone
L
L
Ambrosetti
F
F
Garavelli
L
L
Varriale
L
L
Mazza
V
V
Stanghellini
I
I
Percesepe
A
A
Forabosco
A
A
D024509:3' Flanking Region; D000025:Abortion, Eugenic; D003241:Consanguinity; D004392:Dwarfism / Q000235:genetics*; D004742:Enhancer Elements, Genetic; D005260:Female; D017353:Gene Deletion; D018398:Homeodomain Proteins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D000074122:Short Stature Homeobox Protein
D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein