Research progress in hereditary multiple exostoses / 临床儿科杂志
Journal of Clinical Pediatrics
;
(12): 232-236, 2016.
Artículo
en Chino
| WPRIM
| ID: wpr-487542
ABSTRACT
Hereditary multiple exostoses (HME) is an autosomal dominant genetic disease characterized by multiple benign cartilage-capped tumors primarily at the juxta-epiphyseal region of the long bone or on the lfat bones. Because the tumor can interfere with normal epiphysis, it causes bone deformities. The clinical features include short stature, the mechanical axis deviation, and function impairment. Recent studies showed that EXT gene mutation was associated with HEM. The EXT gene was involved in the biosynthesis of heparin sulfate. The gene mutations resulted in abnormal chondrocyte differentiation. This paper reviews the research progress in clinical manifestation, pathogenesis, biochemistry, the genotype-phenotype correlations, and treatment in HME.
Texto completo:
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Índice:
WPRIM (Pacífico Occidental)
Idioma:
Chino
Revista:
Journal of Clinical Pediatrics
Año:
2016
Tipo del documento:
Artículo
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