Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea
Yonsei Medical Journal
;
: 395-398, 2019.
Article
in English
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Contracture
/
Lower Extremity
/
Exome
/
Korea
Limits:
Female
/
Humans
/
Infant
Country/Region as subject:
Asia
Language:
English
Journal:
Yonsei Medical Journal
Year:
2019
Type:
Article
Similar
MEDLINE
...
LILACS
LIS