Erbkrankheiten/Angeborene Erkrankungen/Mutationen

Erbkrankheiten/Angeborene Erkrankungen/Mutationen

BRCA1/2-Mutation

tp53 und Li-Fraumeni-Syndrom

Genmutationen des Missmatch-Reparatursystems

CHEK2-Mutation/Chk2-Mutation

RAD51C/RAD51D-Mutationen

Rb1-Mutation/mutiertes Retinoblastoma1-Gen

LIG4-Mutation - Ligase IV-Syndrom - Lig4-Syndrom

PNKP-Mutation

Fanconi-Anämie (FA)

Ataxia Teleangiectasia Mutated (ATM)

Nijmegen Breakage Syndrome (NBS)

Neurofibromatose (NF1, NF2)

Xeroderma pigmentosum (XP)

Cockayne-Syndrom/Cockayne's syndrome

Tuberöse Sklerose (TS); Tuberöse Sklerose Komplex (TSC)

Bloom-Syndrom/Bloom's syndrome (BS)

Proteus-Syndrom

Werner-Syndrom

Usher-Syndrom (USH)

Phelan-McDermid-Syndrom (Deletionssyndrom 22q13, PMS)

Gorlin-Goltz-Syndrom

Trichothiodystrophie (TTD)

Rothmund-Thomson-Syndrom (RTS)

SANDO-Syndrom

Brooke-Spiegler-Syndrom (BSS)

Morbus Hailey-Hailey

McCune-Albright-Syndrom (MAS)

Goldenhar-Syndrom

Huntington-Erkrankung

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Ullrich-Turner-Syndrom

Marfan-Syndrom (MFS)