Updates on pathogenesis-related genes and diagnosis and treatment of Rett syndrome / 国际儿科学杂志
International Journal of Pediatrics
;
(6): 764-767, 2018.
Artículo
en Chino
| WPRIM
| ID: wpr-692587
ABSTRACT
Rett syndrome ( RTT) is a devastating neurological disorder that is caused largely by muta-tions in the X-linked gene MECP2,other two genes associated with RTT are CDKL5 and FOXG1. RTT is one of the most common causes of mental retardation in girls,male cases are rare. Classical features of typical RTT in-clude losing acquired spoken language and hand skills,hand stereotypies,epilepsy and respiratory disorders. The diagnosis of RTT mainly depends on the clinical characteristics. Atpresent, it still lacks atargeted treatment. In this review,we summarize both the gene research,diagnosis and treatmentprogresses of RTT so as to improve the understanding of RTT.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Tipo de estudio:
Estudio diagnóstico
/
Estudio de etiología
Idioma:
Chino
Revista:
International Journal of Pediatrics
Año:
2018
Tipo del documento:
Artículo
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