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 diculties. 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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