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CHARGE syndrome: a review of the literature / 中华整形外科杂志
Chinese Journal of Plastic Surgery ; (6): 582-585, 2018.
Artigo em Chinês | WPRIM | ID: wpr-806900
ABSTRACT
CHARGE (Coloboma, Heart defects, Atresia of the choanal, Retarded growth and development, Genital abnormalities, Ear anomalies and deafness) syndrome is a combination of multiple congenital abnormality. With the previous data which has been reported, most cases of CHARGE syndrome were liked to heterozygous mutations in the gene CHD7, encoding the CHD (chromodomain helicase DNA binding domain) member CHD7. Owing to the misleading by common features with other anomaly syndromes and the insufficient CHARGE syndrome, the diagnostic rate of this disease is quite low. In this review authors summarize the recent developments in phenotypic features, diagnosis, aetiology and clinical management of CHARGE syndrome.

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Idioma: Chinês Revista: Chinese Journal of Plastic Surgery Ano de publicação: 2018 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Idioma: Chinês Revista: Chinese Journal of Plastic Surgery Ano de publicação: 2018 Tipo de documento: Artigo