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Clin Dysmorphol. 2017 Oct;26(4):247-251. doi: 10.1097/MCD.0000000000000169.

The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations.

Author information

1
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.
PMID:
28288023
DOI:
10.1097/MCD.0000000000000169
[Indexed for MEDLINE]

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