CKAP2L mutation confirms the diagnosis of Filippi syndrome.
作者信息
Capecchi G, Baldassarri M, Ferranti S, Guidoni E, Cioni M, Nürnberg P, Mencarelli M A, Renieri A, Grosso S
机构信息
Dipartimento di Medicina molecolare e dello sviluppo, Clinica Pediatrica, Siena, Italy.
Medical Genetics, University of Siena, Siena, Italy.
出版信息
Clin Genet. 2018 May;93(5):1109-1110. doi: 10.1111/cge.13188. Epub 2018 Feb 23.
PMID:29473684
Abstract
摘要
Zotero 插件