Phenotypic variability in Muenke syndrome-observations from five Danish families.
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000300
Abstract: Muenke syndrome is a craniosynostosis syndrome associated with the p.Pro250Arg mutation in FGFR3. An increasing number of individuals with this mutation are reported to not have craniosynostosis. The purpose of this report is to increase… read more here.
Keywords: craniosynostosis; variability muenke; muenke syndrome; phenotypic variability ... See more keywords