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Kabuki-Syndrom 1

Das Kabuki-Syndrom 1 ist eine autosomal dominante Erkrankung, die durch Mutationen im KMT2D-Gen hervorgerufen wird. Das Kabuki-Syndrom ist charakterisiert durch typische Veränderungen des Gesichtsschädels und des Skelettes mit Kleinwuchs und mentaler Retardierung.

Gliederung

Kabuki-Syndrom
KDM6A
Kabuki-Syndrom 1
KMT2D
Kabuki-Syndrom 2

Referenzen:

1.

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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.

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53.

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54.

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55.

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56.

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57.

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58.

OMIM.ORG article

Omim 147920 external link
Update: 14. August 2020
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