A novel nonsense mutation of the EXT1 gene in an Argentinian patient with multiple hereditary exostoses: a case report.
Centro de Estudio de las Metabolopatías Congénitas, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina.
María Andrea
MA
Delgado
Patricia
P
Sarrión
Nydia
N
Azar
Lorena
L
Zecchini
Hector Hugo
HH
Robledo
Florencio
F
Segura
Susana
S
Balcells
Daniel
D
Grinberg
Raquel
R
Dodelson de Kremer
Carla Gabriela
CG
Asteggiano
D000328:Adult; D001118:Argentina; D001707:Biopsy, Needle; D001859:Bone Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D018389:Codon, Nonsense; D005097:Exostoses, Multiple Hereditary / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D005260:Female; D005269:Femur / Q000000981:diagnostic imaging / Q000473:pathology; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D008279:Magnetic Resonance Imaging / Q000379:methods; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D015831:Osteochondroma / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D010375:Pedigree; D010384:Pelvic Bones / Q000000981:diagnostic imaging / Q000473:pathology; D011230:Precancerous Conditions / Q000235:genetics / Q000473:pathology; D018570:Risk Assessment; D014057:Tomography, X-Ray Computed / Q000379:methods; D016896:Treatment Outcome; D000099058:Exostosin 1
D018389:Codon, Nonsense; D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1