Publications by authors named "B Almoguera"
Article Synopsis
- The study investigates the genetic factors linked to severe COVID-19, specifically focusing on hospitalized cases in admixed Americans.
- Researchers conducted the largest genome-wide association study (GWAS) for COVID-19 hospitalization in this population, identifying four significant genetic associations, including two novel loci found in Latin Americans.
- The findings highlight the importance of including diverse populations in genomic research, aiming to improve understanding of genetic risks associated with COVID-19 across different ethnic groups.
Background: Tatton-Brown-Rahman syndrome (TBRS) is a rare disorder, caused by heterozygous pathogenic variants, and first described in 2014. TBRS is characterised by overgrowth, intellectual disability, facial dysmorphism, hypotonia and musculoskeletal features, as well as neurological and psychiatric features. Cardiac manifestations have also been reported, mainly congenital malformations such as atrial septal defect, ventricular septal defect and cardiac valvular disease.
View Article and Find Full Text PDFArticle Synopsis
- * A study identified 25 individuals with new variations in the MSL2 gene, who exhibited NDD symptoms such as developmental delays, coordination problems, and autism spectrum disorder, along with other health concerns.
- * iPSCs from affected individuals showed reduced MSL2 levels and changes in gene expression, leading to the characterization of a new MSL2-related disorder with unique clinical markers and a specific DNA episignature for diagnosis.
Snijders Blok-Campeau syndrome (SNIBCPS, OMIM# 618205) is an extremely infrequent disease with only approximately 60 cases reported so far. SNIBCPS belongs to the group of neurodevelopmental disorders (NDDs). Clinical features of patients with SNIBCPS include global developmental delay, intellectual disability, speech and language difficulties and behavioral disorders like autism spectrum disorder.
View Article and Find Full Text PDF