Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis
A González‐del Angel… - American Journal of …, 2016 - Wiley Online Library
Muenke syndrome (MS) is an autosomal dominant coronal craniosynostosis syndrome with
variable extracranial anomalies. We studied 56 unrelated patients with non‐syndromic uni …
variable extracranial anomalies. We studied 56 unrelated patients with non‐syndromic uni …
Significant phenotypic variability of Muenke syndrome in identical twins
LF Escobar, AK Hiett… - American Journal of …, 2009 - Wiley Online Library
Muenke syndrome (MS), also known as Muenke nonsyndromic coronal craniosynostosis, is
an autosomal dominant condition which can be distinguished from the more common forms …
an autosomal dominant condition which can be distinguished from the more common forms …
Muenke syndrome
Background Muenke syndrome is a genetically determined craniosynostosis that involves
one or both coronal sutures. In some patients it is associated with skeletal abnormalities …
one or both coronal sutures. In some patients it is associated with skeletal abnormalities …
Phenotypic variability in Muenke syndrome—observations from five Danish families
L Öwall, S Kreiborg, M Dunø, NV Hermann… - Clinical …, 2020 - journals.lww.com
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 …
mutation in FGFR3. An increasing number of individuals with this mutation are reported to …
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 …
craniosynostosis, hearing loss, developmental delay, carpal, and calcaneal fusions, and …
Muenke syndrome: Medical and surgical comorbidities and long‐term management
CN Murali, DM McDonald‐McGinn… - American Journal of …, 2019 - Wiley Online Library
Abstract Muenke syndrome (MIM# 602849), the most common syndromic craniosynostosis,
results from the recurrent pathogenic p. P250R variant in FGFR3. Affected patients exhibit …
results from the recurrent pathogenic p. P250R variant in FGFR3. Affected patients exhibit …
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 …
autosomal dominant disorder with incomplete penetrance and variable expressivity. Typical …
A Korean family with the Muenke syndrome
JE Yu, DH Park, SH Yoon - Journal of Korean medical …, 2010 - synapse.koreamed.org
The Muenke syndrome (MS) is characterized by unicoronal or bicoronal craniosynostosis,
midfacial hypoplasia, ocular hypertelorism, and a variety of minor abnormalities associated …
midfacial hypoplasia, ocular hypertelorism, and a variety of minor abnormalities associated …
Coronal synostosis syndrome (Muenke syndrome): the value of genetic testing versus clinical diagnosis
A Ranger, N Chaudhary, J Rau, D Matir… - Journal of Craniofacial …, 2011 - journals.lww.com
Background: Muenke syndrome is a fibroblast growth factor receptor 3 (FGFR-3)-associated
coronal craniosynostosis syndrome, which was first described in 1997. Case: We report an …
coronal craniosynostosis syndrome, which was first described in 1997. Case: We report an …
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 …
craniosynostosis, hearing loss, developmental delay, carpal and tarsal fusions, and the …
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