Purpose There are a number of craniosynostosis syndromes with hearing loss—including
Muenke, Apert, Pfeiffer, Crouzon, Beare-Stevenson, Crouzon with acanthosis nigricans, and …

Receptor tyrosine kinase (RTK) signal transduction is essential in human skeletal, nervous,
and vascular development, in homeostasis, and in disease. RTKs are activated by …

In this case report, we focus on Muenke syndrome (MS), a disease caused by the p.
Pro250Arg variant in fibroblast growth factor receptor 3 (FGFR3) and characterized by uni-or …

We recently reported that cranial bones of Fgfr2C342Y/+ craniosynostotic mice are
diminished in density when compared to those of wild type mice, and that cranial bone cells …

Muenke syndrome is defined by the presence of the specific FGFR3 pathogenic variant–c.
749C> G–that results in the protein change p. Pro250Arg. Muenke syndrome is …

Abstract Purpose The Muenke syndrome mutation (FGFR3 P250R), which was discovered
15 years ago, represents the single most common craniosynostosis mutation. Muenke …

The interplay of signals between dura mater, suture mesenchyme, and brain is essential in
determining the fate of cranial sutures and the pathogenesis of premature suture fusion …

Angiogenesis, the process of new blood vessel formation, is implicated in various
physiological/pathological conditions, including embryonic development, inflammation and …

We report on a female patient with an exceedingly rare combination of achondroplasia and
multiple‐suture craniosynostosis. Besides the specific features of achondroplasia …

The epidermal growth factor receptor (EGFR) variant Xmrk of the Mexican fish Xiphophorus
is one of the first oncogenes described. Its overexpression in pigment cells of the skin occurs …