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1. Biallelic PKP2loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects

2. Heterozygous rare variants in NR2F2cause a recognizable multiple congenital anomaly syndrome with developmental delays

3. De Novo ZMYND8variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations

4. Expanded phenotype of AARS1-related white matter disease

5. PIGGvariant pathogenicity assessment reveals characteristic features within 19 families

7. Biallelic CRELD1variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

8. Risk category system to identify pituitary adenoma patients with AIPmutations

9. AIPmutations in young patients with acromegaly and the Tampico Giant: the Mexican experience

11. Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIPMutation Carriers

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