The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations.
作者信息
Bayat Allan, Kerr Bronwyn, Douzgou Sofia
机构信息
aDepartment of Pediatrics, University Hospital of Hvidovre, Hvidovre, Denmark bManchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre cSchool of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester dWellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
出版信息
Clin Dysmorphol. 2017 Oct;26(4):247-251. doi: 10.1097/MCD.0000000000000169.
PMID:28288023
Abstract
摘要
Zotero 插件