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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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Okano, Satomi, Miyamoto, Akie, Fukuda, Ikue, Tanaka, Hajime, Hata, Kenichiro, Kaname, Tadashi, Matsubara, Yoichi, Makita, Yoshio
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2018
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5972145/
https://ncbi.nlm.nih.gov/pubmed/29899993
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-018-0010-1
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