Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Knochendysplasie

Knochendysplasie ist eine heterogene Gruppe von Knochenerkrankungen verstanden, die durch eine Fehlentwicklung entstehen.

Gliederung

Erbliche Knochenerkrankungen
Akro-reno-okuläres Syndrom
Albright-Osteodystrophie
Angeborene Skelettfelbildungen
Ehlers-Danlos-Syndrom bei Tenascin-X-Mangel
IVIC-Syndrom
Kabuki-Syndrom
Knochendysplasie
Achondroplasie
FGFR3
Antley-Bixler-Syndrom 1
POR
Antley-Bixler-Syndrom 2
FGFR2
Apert-Syndrom
FGFR2
Blomstrand-Chondrodysplasie
PTH1R
Brachydaktylie Typ E2
PTHLH
Crouzon-Syndrom
FGFR3
Eiken-Syndrom
PTH1R
McCune-Albright-Syndrom
GNAS
Muenke-Syndrom
FGFR3
Murk-Jansen metaphyseale Chondrodysplasie
PTH1R
Osteopathia striata mit kranialer Sklerose
AMER1
Schimke-Dysplasie
SMARCAL1
Thanatophore Dysplasie 1
FGFR3
Thanatophore Dysplasie 2
FGFR3
Zahnbildungsstörungen
PTH1R
Metabolische Knochenerkrankungen

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