Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

To unravel missing genetic causes underlying monogenic disorders with recurrence in sibling, we explored the hypothesis of parental germline mosaic mutations in familial forms of malformation of cortical development (MCD). Interestingly, four families with parental germline variants, out of 18, were...

全面介紹

Na minha lista:
書目詳細資料
發表在:Eur J Hum Genet
Main Authors: Zillhardt, Julia Lauer, Poirier, Karine, Broix, Loïc, Lebrun, Nicolas, Elmorjani, Adrienne, Martinovic, Jelena, Saillour, Yoann, Muraca, Giuseppe, Nectoux, Juliette, Bessieres, Bettina, Fallet-Bianco, Catherine, Lyonnet, Stanislas, Dulac, Olivier, Odent, Sylvie, Rejeb, Imen, Jemaa, Lamia Ben, Rivier, Francois, Pinson, Lucile, Geneviève, David, Musizzano, Yuri, Bigi, Nicole, Leboucq, Nicolas, Giuliano, Fabienne, Philip, Nicole, Vilain, Catheline, Van Bogaert, Patrick, Maurey, Hélène, Beldjord, Cherif, Artiguenave, François, Boland, Anne, Olaso, Robert, Masson, Cécile, Nitschké, Patrick, Deleuze, Jean-François, Bahi-Buisson, Nadia, Chelly, Jamel
格式: Artigo
語言:Inglês
出版: Nature Publishing Group 2016
主題:
Short Report
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4929884/
https://ncbi.nlm.nih.gov/pubmed/26395554
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.192
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!

相似書籍