Belén Gil-Fournier

TL;DR: TRIM63 appears to be an uncommon cause of HCM inherited in an autosomal-recessive manner and associated with concentric LVH and a high rate of LV dysfunction.

TL;DR: New candidate genes for COVID-19 severity and evidence supporting genetic disparities among sexes are provided and more SNP-heritability and larger heritability differences by age (<60 or‬60 years) among males than among females are found.

TL;DR: Carey-Fineman-Ziter syndrome is a congenital myopathy associated with mutations in the MYMK gene and the identification of new well characterized genetic cases will help to delineate the complete phenotype.

TL;DR: A 9-year-old female with persistent hypercalcemia in several routine blood analyses, who was diagnosed with familial hypocalciuric hyperCalcemia after genetic studies were performed, was reported to have a new mutation determining a nucleotide change c.2089G>A in the calcium-sensing receptor gene (exon 7) was detected.

TL;DR: Molecular biology has helped to comprehend the mechanisms of pathophysiology in Alport syndrome and a new mutation finding in hemizygosis in the COL4A5 gene was found, which supports the need of more sophisticated molecular methods to increase the mutation detection rates with lower costs and less time.