Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea
Yonsei Medical Journal
;
: 395-398, 2019.
Artículo
en Inglés
| WPRIM
| ID: wpr-742542
ABSTRACT
Genitopatellar syndrome (GPS) is a rare disorder characterized by patellar hypoplasia, flexion contractures of the lower limbs, psychomotor retardation and genital and renal anomalies. We report the case of a female infant diagnosed with GPS to a KAT6B gene mutation, which was identified using whole exome sequencing.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Contractura
/
Extremidad Inferior
/
Exoma
/
Corea (Geográfico)
Límite:
Femenino
/
Humanos
/
Lactante
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Yonsei Medical Journal
Año:
2019
Tipo del documento:
Artículo
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