19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

Trimouille, Aurélien; Houcinat, Nada; Vuillaume, Marie-Laure; Fergelot, Patricia; Boucher, Cécile; Toutain, Jérôme; Caignec, Cédric Le; Vincent, Marie; Nizon, Mathilde; Andrieux, Joris; Vanlerberghe, Clémence; Delobel, Bruno; Duban, Bénédicte; Mansour, Sahar; Baple, Emma; McKeown, Colina; Poke, Gemma; Robertshaw, Kate; Fifield, Eve; Fabretto, Antonella; Pecile, Vanna; Gasparini, Paolo; Carrozzi, Marco; Lacombe, Didier; Arveiler, Benoît; Rooryck, Caroline; Moutton, Sébastien

期刊名称European Journal of Human Genetics
作者Trimouille, Aurélien; Houcinat, Nada; Vuillaume, Marie-Laure; Fergelot, Patricia; Boucher, Cécile; Toutain, Jérôme; Caignec, Cédric Le; Vincent, Marie; Nizon, Mathilde; Andrieux, Joris; Vanlerberghe, Clémence; Delobel, Bruno; Duban, Bénédicte; Mansour, Sahar; Baple, Emma; McKeown, Colina; Poke, Gemma; Robertshaw, Kate; Fifield, Eve; Fabretto, Antonella; Pecile, Vanna; Gasparini, Paolo; Carrozzi, Marco; Lacombe, Didier; Arveiler, Benoît; Rooryck, Caroline; Moutton, Sébastien
印刷ISSN1018-4813
电子ISSN1476-5438
文件大小1784.45KB
发表时间2017-11-28
DOI10.1038/s41431-017-0037-7

发现好书期刊，享受阅读乐趣

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference