[Muenke syndrome].
Sign Up to like & getrecommendations! Published in 2017 at "Anales de pediatria"
DOI: 10.1016/j.anpedi.2016.02.005
Abstract: Many people with this disorder have a premature fusion of skull bones along the coronal suture, the growth line that goes over the head from ear to ear. Other parts of the skull may also… read more here.
Keywords: muenke syndrome; syndrome;
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