1.
Yonsei Med J
; 60(4): 395-398, 2019 Apr.
Article
in English
| MEDLINE
| ID: mdl-30900427
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.