Das Muenke-Syndrom ist eine autosomal dominante Erkrankung, die durch eine Mutation (p.P250R) des FGFR3-Gens ausgelöst wird.
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Reardon W et al. (1997) Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. |
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Abdel-Salam GM et al. (2011) Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype. |
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Escobar LF et al. (2009) Significant phenotypic variability of Muenke syndrome in identical twins. |
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Doherty ES et al. (2007) Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. |
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Shah PS et al. (2006) Sudden infant death in a patient with FGFR3 P250R mutation. |
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van der Meulen J et al. (2006) Trigonocephaly in Muenke syndrome. |
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Kress W et al. (2006) Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. |
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Grosso S et al. (2003) Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia. |
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Mansour SL et al. (2009) Hearing loss in a mouse model of Muenke syndrome. |
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Rannan-Eliya SV et al. (2004) Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis. |
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Lowry RB et al. (2001) Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene. |
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Lajeunie E et al. (1999) Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation. |
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Gripp KW et al. (1998) Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3. |
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Hollway GE et al. (1998) Deafness due to Pro250Arg mutation of FGFR3. |
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None (1997) Craniosynostosis: genes and mechanisms. |
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Golla A et al. (1997) Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family. |
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Muenke M et al. (1997) A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. |
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Orphanet article Orphanet ID 53271 |
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OMIM.ORG article Omim 602849 |
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Wikipedia Artikel Wikipedia DE (Muenke-Syndrom) |