title: SHOX point mutations in dyschondrosteosis.
authors.forename: C
authors.initials: C
authors.lastname: Huber
authors.forename: V
authors.initials: V
authors.lastname: Cusin
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
authors.forename: M
authors.initials: M
authors.lastname: Mathieu
authors.forename: V
authors.initials: V
authors.lastname: Sulmont
authors.forename: N
authors.initials: N
authors.lastname: Dagoneau
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: V
authors.initials: V
authors.lastname: Cormier-Daire
mesh_terms: D001827:Body Height / Q000235:genetics; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D016368:Frameshift Mutation / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics*; D018895:Microsatellite Repeats / Q000235:genetics; D017354:Point Mutation / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics; D000074122:Short Stature Homeobox Protein
chemical_list: D018389:Codon, Nonsense; D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein