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

Key Clinical Message 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, an...

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Détails bibliographiques

Auteurs principaux:	Nozomi Hishimura, Michiko Watari, Hiroki Ohata, Naho Fuseya, Sadae Wakiguchi, Tomoharu Tokutomi, Kouji Okuhara, Nobuhiro Takahashi, Susumu Iizuka, Hiroshi Yamamoto, Takashi Mishima, Satoko Fujieda, Ryoji Kobayashi, Kazutoshi Cho, Yukiko Kuroda, Kenji Kurosawa, Hidefumi Tonoki
Format:	Artigo
Langue:	Inglês
Publié:	Wiley 2017-01-01
Collection:	Clinical Case Reports
Sujets:	Mutation prenatal diagnosis Schinzel–Giedion syndrome SETBP1
Accès en ligne:	https://doi.org/10.1002/ccr3.738
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