Clinical and genetic characteristics of Chinese patients with Waardenburg syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1186-1190, 2020.
Artigo
em Chinês
| WPRIM
| ID: wpr-827713
ABSTRACT
Waardenburg syndrome (WS), also known as auditorypigmentary syndrome, is characterized by non-progressive sensorineural hearing loss and anomalous pigmentation. Its mode of inheritance is either autosomal dominant or autosomal recessive. So far only PAX3, MITF, SOX10 and EDNRB mutations have been identified among Chinese patients with WS. This review has provided an update for WS-related genes, mutation databases, molecular and functional data, and a discussion over the molecular diagnosis of WS.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Tipo de estudo:
Estudo prognóstico
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2020
Tipo de documento:
Artigo
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