Centre Hospitalier Universitaire de Rennes

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome

Abstract Background Pathogenic variants in AGO2 ,encoding a central component of the RNA-induced silencing complex (RISC), cause the neurodevelopmental disorder Lessel-Kreienkamp syndrome (LESKRES). The variant spectrum and associated molecular mechanisms underlying phenotypic va...

Surgical Morbidity and Short-Term Oncologic Status after Prophylactic-Intent Thyroidectomy in a Cohort of Children with MEN2 from the Multicenter GTE ENDOCAN-RENATEN Study

BACKGROUND: Children carrying germline RET mutations associated with multiple endocrine neoplasia type 2 (MEN2) are at high risk of developing medullary thyroid carcinoma (MTC). Prophylactic-intent thyroidectomy is recommended during childhood to prevent progression to advanced d...