Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Lilia M A Moreira"'
Autor:
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon
Publikováno v:
PLoS Genetics, Vol 13, Iss 3, p e1006683 (2017)
Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in ex
Externí odkaz:
https://doaj.org/article/440a8175bc6a4b288c26413ff92775b4
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 34, Iss 4, Pp 374-378 (1976)
Os autores registram um caso de retardo neuromotor em paciente com cromossomo 1qh+. A análise cromossômica do paciente e três familiares revelou igualmente em todos, aumento do braço longo do cromossomo n.° 1. Entretanto, é considerada a possib
Externí odkaz:
https://doaj.org/article/02c682ffda484a899368ead9d798a390