YEAR 2024 VOLUME 2 ISSUE 3
EditorialOpen Access
A Genomic Revolution: Advancing Health and Knowledge in Latin America
Editorial: Pioneering Genetics and Genomics Research for Regional Progress
As we enter the second year of the Genetics and Clinical Genomics Journal , there is much anticipation for the future of this field in the region. It’s remarkable t...
Case reportOpen Access
Hypotonic syndrome as a manifestation of an ultra-rare disease caused by a new and de novo variant in the PLA2G6 gene
Introduction : congenital hypotonia, a rare condition that encompasses various neuromuscular disorders, can have a genetic origin, such as infantile neuroaxonal dystrophy (inad), an ultra-rare neurodegenerative disorder of unknown prevalence. O...
Case reportOpen Access
De novo variant in the COL1A1 gene associated with orphan genetic disease: Osteogenesis Imperfecta type I
Introduction : Osteogenesis Imperfecta (OI), is known as a disorder characterized by bone weakness and high risk of fractures, of genetic origin, known as brittle bone disease. It has a high burden of morbidity and mortality, associated with the...
Case reportOpen Access
De novo genetic variant in epileptic encephalopathy: Importance of specific diagnosis
Introduction : Early infantile epileptic encephalopathies (EIEE) are rare syndromes that affect neurological development. The etiology has been uncertain for a long time, but advances in genetics have identified numerous associated genes. Varian...
Case reportOpen Access
Detection of a genetic variant of Apert syndrome
Introduction : Apert syndrome (AS), or acrocephalosyndactyly type I, is an autosomal dominant congenital disorder caused by a mutation in the FGFR2 gene, essential during embryonic development. It is characterized by craniosynostosis, midface hy...
Literature ReviewOpen Access
Advances and Perspectives of Genetic Pathologies in the 21st century.
Introduction : The discovery of deoxyribonucleic acid in 1953 marks the difference between classical genetics that was based on clinical observation to make diagnoses and perform genomic modifications empirically, which triggered a series of gen...