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2 Result(s)
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Atsuko Noguchi
Gene Function
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Article
Open AccessPrecocious 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...
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Article
Open AccessA 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...
