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2. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

3. Comparison of first‐tier whole‐exome sequencing with a multi‐step traditional approach for diagnosing paediatric outpatients: An Italian prospective study

4. CATSHL syndrome, a new family and phenotypic expansion

5. Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW‐related prenatal findings

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