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Detection in Japan of an equine-like G3P[8] reassortant rotavirus A strain that is highly homologous to European strains across all genome segments

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  1. Article

    Open Access

    Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3

    Here, we report a Japanese patient with Simpson–Golabi–Behmel syndrome involving a de novo 240-kb deletion including a part of GPC3. The patient showed pre- and postnatal macrosomia associated with coarse face, m...

    Keisuke Watanabe, Atsuko Noguchi, Ikuko Takahashi, Mamiko Yamada… in Human Genome Variation (2022)

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  2. Article

    Open Access

    A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia

    Functionally activating mutations in fibroblast growth factor receptor 3 (FGFR3) can cause four types of autosomal dominant skeletal dysplasia with short-limbed dwarfism that include the mildest phenotype, hyp...

    Ikuko Takahashi, Daiki Kondo, Chikako Oyama, Tamami Yano… in Human Genome Variation (2018)

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