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...

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Bibliografiska uppgifter
I publikationen:Clin Case Rep
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: John Wiley and Sons Inc. 2016
Ämnen:
Case Reports
Länkar: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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