A female patient with Xp21 gene deletion syndrome
Journal of Genetic Medicine
;
: 101-104, 2021.
Artículo
en Inglés
| WPRIM
| ID: wpr-915029
ABSTRACT
Xp21 contiguous gene deletion syndrome is associated with complex glycerol kinase deficiency, congenital adrenal hypoplasia, Duchene muscular dystrophy, and intellectual disability. Xp21 gene deletion syndrome is X-linked recessive, so most symptomatic patients are male, and only a few female symptomatic patients have been reported. We report the first female Korean case of an Xp21 deletion. NGS data were analyzed for copy number variation, and the Xp21 deletion (chr X29301056-31838200) was confirmed using real-time PCR.
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Índice:
WPRIM (Pacífico Occidental)
Idioma:
Inglés
Revista:
Journal of Genetic Medicine
Año:
2021
Tipo del documento:
Artículo
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