Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy.
作者信息
Cabet Sara, Putoux Audrey, Buenerd Annie, Gueneau Lucie, Reymond Alexandre, Thia Edwin W H, Lai Angeline H M, Schindewolf Erica M, Sanlaville Damien, Lesca Gaetan, Guibaud Laurent
机构信息
Department of Pediatric and Fetal Imaging, Hospital Femme Mère Enfant, Lyon, Bron, France.
Department of Genetics, Hospital Femme Mère Enfant, Lyon, Bron, France.
出版信息
Prenat Diagn. 2020 Jan;40(2):276-281. doi: 10.1002/pd.5589. Epub 2019 Dec 5.
DOI:10.1002/pd.5589
PMID:31736083
Abstract
摘要
Zotero 插件