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3. SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type

5. Deletion 2q31.2‐q31.3 in a 4‐year‐old girl with microcephaly and severe mental retardation

8. Prenatal diagnosis of a fetus with ring chromosome 15 characterized by array‐CGH

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