Genetic and prenatal findings in two Japanese patients with Schinzel–Giedion syndrome

We report two Japanese patients with Schinzel–Giedion syndrome. When polyhydramnios is observed, additional fetal findings such as overlapping fingers, hydrocephalus, hydronephrosis, and very characteristic facial appearance comprising high, prominent forehead, hypertelorism, and depressed nasal roo...

詳細記述

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書誌詳細
出版年:Clin Case Rep
主要な著者: Hishimura, Nozomi, Watari, Michiko, Ohata, Hiroki, Fuseya, Naho, Wakiguchi, Sadae, Tokutomi, Tomoharu, Okuhara, Kouji, Takahashi, Nobuhiro, Iizuka, Susumu, Yamamoto, Hiroshi, Mishima, Takashi, Fujieda, Satoko, Kobayashi, Ryoji, Cho, Kazutoshi, Kuroda, Yukiko, Kurosawa, Kenji, Tonoki, Hidefumi
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2016
主題:
Case Reports
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5224771/
https://ncbi.nlm.nih.gov/pubmed/28096980
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.738
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