Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Muenke-Syndrom

Das Muenke-Syndrom ist eine autosomal dominante Erkrankung, die durch eine Mutation (p.P250R) des FGFR3-Gens ausgelöst wird.

Gliederung

Knochendysplasie
Achondroplasie
Antley-Bixler-Syndrom 1
Antley-Bixler-Syndrom 2
Apert-Syndrom
Blomstrand-Chondrodysplasie
Brachydaktylie Typ E2
Crouzon-Syndrom
Eiken-Syndrom
McCune-Albright-Syndrom
Muenke-Syndrom
FGFR3
Murk-Jansen metaphyseale Chondrodysplasie
Osteopathia striata mit kranialer Sklerose
Schimke-Dysplasie
Thanatophore Dysplasie 1
Thanatophore Dysplasie 2
Zahnbildungsstörungen

Referenzen:

1.

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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2.

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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3.

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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4.

None (1997) Craniosynostosis: genes and mechanisms.

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5.

Hollway GE et. al. (1998) Deafness due to Pro250Arg mutation of FGFR3.

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6.

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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7.

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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8.

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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9.

Rannan-Eliya SV et. al. (2004) Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.

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10.

Mansour SL et. al. (2009) Hearing loss in a mouse model of Muenke syndrome.

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11.

Grosso S et. al. (2003) Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia.

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12.

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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13.

van der Meulen J et. al. (2006) Trigonocephaly in Muenke syndrome.

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14.

Shah PS et. al. (2006) Sudden infant death in a patient with FGFR3 P250R mutation.

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15.

Doherty ES et. al. (2007) Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.

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16.

Escobar LF et. al. (2009) Significant phenotypic variability of Muenke syndrome in identical twins.

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17.

Abdel-Salam GM et. al. (2011) Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype.

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