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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Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2016
Assuntos:
Case Reports
Acesso em linha: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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