title: Severe SHOX gene haploinsufficiency in a girl with a novel mutation (M1T) involving the first codon of coding region.
authors.forename: M
authors.initials: M
authors.lastname: Wasniewska
authors.forename: G
authors.initials: G
authors.lastname: Raiola
authors.forename: A
authors.initials: A
authors.lastname: Nicoletti
authors.forename: M C
authors.initials: MC
authors.lastname: Galati
authors.forename: M F
authors.initials: MF
authors.lastname: Messina
authors.forename: S
authors.initials: S
authors.lastname: Mirabelli
authors.forename: F
authors.initials: F
authors.lastname: De Luca
mesh_terms: D001483:Base Sequence; D002648:Child; D003062:Codon; D004252:DNA Mutational Analysis; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D000074122:Short Stature Homeobox Protein
chemical_list: D003062:Codon; D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein