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Genitopatellar syndrome: the first reported case in Japan

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...

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Detalles Bibliográficos
Autores principales:	Okano, Satomi, Miyamoto, Akie, Fukuda, Ikue, Tanaka, Hajime, Hata, Kenichiro, Kaname, Tadashi, Matsubara, Yoichi, Makita, Yoshio
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2018
Materias:	Data Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972145/ https://www.ncbi.nlm.nih.gov/pubmed/29899993 http://dx.doi.org/10.1038/s41439-018-0010-1

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