[引用][C] Muenke syndrome with osteochondroma

M Barbosa, MR Almeida, M Reis‐Lima… - American Journal of …, 2009 - Wiley Online Library
Here, we report on a patient with Muenke syndrome with an osteochondroma, which to our
knowledge, has not been previously recorded. The syndrome consists of coronal synostosis …

Muenke Syndrome associated with multiple osteochondromas

SG Talbot, J Upton, GF Rogers - Journal of Craniofacial Surgery, 2012 - journals.lww.com
Muenke syndrome caused by the FGFR3 Pro250Arg mutation is associated with
craniosynostosis, hearing loss, and various bony anomalies. Although this mutation is …

Muenke syndrome

BD Solomon, M Muenke - Craniosynostoses, 2011 - karger.com
Muenke syndrome is defined by the presence of the p. P250R mutation in FGFR3, and is an
autosomal dominant disorder with incomplete penetrance and variable expressivity. Typical …

Muenke syndrome (FGFR3‐related craniosynostosis): Expansion of the phenotype and review of the literature

ES Doherty, F Lacbawan, DW Hadley… - American Journal of …, 2007 - Wiley Online Library
Muenke syndrome is an autosomal dominant disorder characterized by coronal suture
craniosynostosis, hearing loss, developmental delay, carpal and tarsal fusions, and the …

Sudden infant death in a patient with FGFR3 P250R mutation

PS Shah, K Siriwardena, G Taylor… - American Journal of …, 2006 - Wiley Online Library
P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with
coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities …

A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation – case report and review of the literature

C Aravidis, CP Konialis, CG Pangalos… - The Journal of …, 2014 - Taylor & Francis
Muenke is a fibroblast growth factor receptor 3 (FGFR-3)-associated syndrome, which was
first described in late 1990s. Muenke syndrome is an autosomal dominant disorder …

[HTML][HTML] Muenke syndrome

P Kruszka, YA Addissie, NB Agochukwu, ES Doherty… - 2016 - europepmc.org
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 …

Muenke syndrome: An international multicenter natural history study

P Kruszka, YA Addissie, CMP Yarnell… - American journal of …, 2016 - Wiley Online Library
Muenke syndrome is an autosomal dominant disorder characterized by coronal suture
craniosynostosis, hearing loss, developmental delay, carpal, and calcaneal fusions, and …

Muenke syndrome

YA Addissie, CMP Yarnell, P Kruszka… - Middle East Journal of …, 2015 - journals.lww.com
Muenke syndrome is an autosomal dominant disorder characterized by coronal suture
craniosynostosis, hearing loss, developmental delay, and carpal and tarsal fusions …

Muencke syndrome with cleft lip and palate

PJ Anderson, B Snell, MH Moore - Journal of Craniofacial Surgery, 2013 - journals.lww.com
Muencke syndrome results from mutations in the FGFR3 gene, and although it is well
recognized that the clinical presentation is variable, the important key finding includes …