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Genitopatellar syndrome: the first reported case in Japan

By Satomi Okano, Akie Miyamoto, Ikue Fukuda, Hajime Tanaka, Kenichiro Hata, Tadashi Kaname, Yoichi Matsubara and Yoshio Makita

Abstract

Abstract Genitopatellar syndrome (GPS) is mainly characterized by an absence of patellae, congenital flexion contractures of the lower limbs, psychomotor retardation, and anomalies of the external genitalia and kidneys. We report an 18-year-old female with a novel heterozygous truncating mutation in exon 17 of the KAT6B gene [MC_000010.11:c.3603_3606 del, p.Arg1201fs]. This is the first report of typical GPS in a Japanese individual. The details of our findings may contribute to elucidating the mechanism underlying GPS-specific clinical features

Topics: Genetics, QH426-470, Life, QH501-531
Publisher: Nature Publishing Group
Year: 2018
DOI identifier: 10.1038/s41439-018-0010-1
OAI identifier: oai:doaj.org/article:e9f7c776df1e44ca8cdca5edf809278c
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