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A case of Noonan syndrome with severe blepharophimosis / 中华整形外科杂志
Chinese Journal of Plastic Surgery ; (6): 80-82, 2020.
Artigo em Chinês | WPRIM | ID: wpr-798830
ABSTRACT
Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, congenital heart disease, short stature, developmental delay, and bleeding diculties. This paper reports a rare Noonan syndrome child who presented chiefly to our institution with severe blepharophimosis. After DAN whole exome sequencing analysis, the patient was diagnosed with the PTPN11 gene c. 1517C> T mutation.

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Idioma: Chinês Revista: Chinese Journal of Plastic Surgery Ano de publicação: 2020 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: 2020 Tipo de documento: Artigo