Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

McCune-Albright-Syndrom

McCune-Albright-Syndrom beruht auf somatischen Mutationen des GNAS Gens, die frühzeitig in der Entwicklung auftreten undzu einem Mosaik gesunder und erkrankter zellen führen. Klinisch ist die Erkrankung gekennzeichnet durch die Trias Pubertas praecox, fibröse Dysplasie des Knochens (Jaffe-Lichtenstein) und Cafe-au-lait Flecken.

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
GNAS
Muenke-Syndrom
Murk-Jansen metaphyseale Chondrodysplasie
Osteopathia striata mit kranialer Sklerose
Schimke-Dysplasie
Thanatophore Dysplasie 1
Thanatophore Dysplasie 2
Zahnbildungsstörungen

Referenzen:

1.

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2.

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3.

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4.

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5.

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6.

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7.

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8.

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9.

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10.

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11.

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12.

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13.

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14.

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15.

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16.

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17.

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18.

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19.

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20.

Schwindinger WF et al. (1992) Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.

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21.

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22.

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23.

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24.

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25.

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26.

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27.

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28.

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29.

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30.

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31.

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32.

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33.

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34.

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35.

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36.

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37.

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38.

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39.

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40.

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41.

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42.

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43.

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44.

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45.

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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.

Malchoff CD et al. (1994) An unusual presentation of McCune-Albright syndrome confirmed by an activating mutation of the Gs alpha-subunit from a bone lesion.

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53.

et al. (1993) Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 7-1993. A six-year-old boy with multiple bone lesions, repeated fractures, and sexual precocity.

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54.

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55.

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56.

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57.

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