Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea
Yonsei Medical Journal
; : 395-398, 2019.
Article
em En
| WPRIM
| ID: wpr-742542
Biblioteca responsável:
WPRO
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.
Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Contratura
/
Extremidade Inferior
/
Exoma
/
Coreia (Geográfico)
Limite:
Female
/
Humans
/
Infant
País/Região como assunto:
Asia
Idioma:
En
Revista:
Yonsei Medical Journal
Ano de publicação:
2019
Tipo de documento:
Article