HIGH DIAGNOSTIC YIELD OF TARGETED NEXT-GENERATION SEQUENCING IN A COHORT OF PATIENTS WITH CONGENITAL HYPOTHYROIDISM DUE TO DYSHORMONOGENESIS

High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis

ObjectiveTo elucidate the molecular cause in a well-characterized cohort of patients with Congenital Hypothyroidism (CH) and Dyshormonogenesis (DH) by using targeted next-generation sequencing (TNGS).Study designWe studied 19 well-characterized patients diagnosed with CH and DH by targeted NGS including genes involved in thyroid hormone production.

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Primary hemophagocytic lymphohistiocytosis in adults: the utility of family surveys in a single-center study from China

Abstract Background This study investigated the clinical characteristics of primary hemophagocytic lymphohistiocytosis (HLH) in adults, including immunological markers, pedigree findings, and conditions of allogeneic hematopoietic stem cell transplantation (Allo-HSCT).Methods The study included here clinical data of 18 adult patients with primary H

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