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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Bibliografiske detaljer
Udgivet i:Hum Genome Var
Main Authors: Okano, Satomi, Miyamoto, Akie, Fukuda, Ikue, Tanaka, Hajime, Hata, Kenichiro, Kaname, Tadashi, Matsubara, Yoichi, Makita, Yoshio
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2018
Fag:
Data Report
Online adgang: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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