title: The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia.
authors.forename: R
authors.initials: R
authors.lastname: Bertorelli
authors.forename: L
authors.initials: L
authors.lastname: Capone
authors.forename: F
authors.initials: F
authors.lastname: Ambrosetti
authors.forename: L
authors.initials: L
authors.lastname: Garavelli
authors.forename: L
authors.initials: L
authors.lastname: Varriale
authors.forename: V
authors.initials: V
authors.lastname: Mazza
authors.forename: I
authors.initials: I
authors.lastname: Stanghellini
authors.forename: A
authors.initials: A
authors.lastname: Percesepe
authors.forename: A
authors.initials: A
authors.lastname: Forabosco
mesh_terms: 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
chemical_list: D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein