title: SHOX point mutations and deletions in Leri-Weill dyschondrosteosis.
authors.affiliation: Cattedra di Genetica Medica, Università di Modena, Via del Pozzo 71, 41100 Modena, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Falcinelli
authors.forename: L
authors.initials: L
authors.lastname: Iughetti
authors.forename: A
authors.initials: A
authors.lastname: Percesepe
authors.forename: G
authors.initials: G
authors.lastname: Calabrese
authors.forename: F
authors.initials: F
authors.lastname: Chiarelli
authors.forename: M
authors.initials: M
authors.lastname: Cisternino
authors.forename: L
authors.initials: L
authors.lastname: De Sanctis
authors.forename: I
authors.initials: I
authors.lastname: Pucarelli
authors.forename: G
authors.initials: G
authors.lastname: Radetti
authors.forename: M
authors.initials: M
authors.lastname: Wasniewska
authors.forename: G
authors.initials: G
authors.lastname: Weber
authors.forename: L
authors.initials: L
authors.lastname: Stuppia
authors.forename: S
authors.initials: S
authors.lastname: Bernasconi
authors.forename: A
authors.initials: A
authors.lastname: Forabosco
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D017353:Gene Deletion; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D007558:Italy; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics*; D017354:Point Mutation; D000074122:Short Stature Homeobox Protein
chemical_list: D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein