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Thanatophore Dysplasie 1

Die Thanatophore Dysplasie 1 ist eine autosomal dominante Erkrankung, welche durch Mutationen im FGFR3-Gen ausgelöst wird. Sie ist eine lethale Form des Zwegwuchses mit stark verkürzten Extremitäten. Typisch für den Typ 1 ist der gebogene Femur. Dagegen ist der Kleeblattschädel nicht immer nachweisbar.

Gliederung

Knochendysplasie
Achondroplasie
Achondroplasie-SCID-Syndrom
Akro-capito-femorale Dysplasie
Antley-Bixler-Syndrom 1
Antley-Bixler-Syndrom 2
Apert-Syndrom
Blomstrand-Chondrodysplasie
Cherubismus
Chondrodysplasie
Crouzon-Syndrom
Eiken-Syndrom
McCune-Albright-Syndrom
Muenke-Syndrom
Murk-Jansen metaphyseale Chondrodysplasie
Osteofibröse dysplasie
Osteopathia striata mit kranialer Sklerose
Schimke-Dysplasie
Thanatophore Dysplasie 1
FGFR3
Thanatophore Dysplasie 2
Zahnbildungsstörungen

Referenzen:

1.

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2.

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46.

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47.

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48.

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49.

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50.

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51.

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52.

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53.

OMIM.ORG article

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Update: 14. August 2020
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