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Home > D. Systemic pathology > Genetic and developmental anomalies > cerebrooculogacioskeletal syndrome

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cerebrooculogacioskeletal syndrome

MIM.214150

Etiology

- Locus 10q11: ERCC6 mutations
- Locus 13q33
- Locus 19q13.2-q13.3: ERCC2 mutations