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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Enregistré dans:
Détails bibliographiques
Publié dans:Clin Case Rep
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: John Wiley and Sons Inc. 2016
Sujets:
Case Reports
Accès en ligne: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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