Genetic disorder
2 articles · search the full text for this term
-
Stretching Boundaries: A Comprehensive Review of Ehlers-Danlos Syndrome and its Subtypes
Abstract: The Ehlers-Danlos syndromes (EDS) encompass 13 inheritable disorders affecting connective tissue. These conditions arise from genetic alterations impacting the structure of connective tissue. Every variant of Ehlers-Danlos syndrome (EDS) exhibits distinct features and has specific diagnostic criteria. While certain traits such as joint hypermobility, skin hyperextensibility, and tissue fragility are common across all types of EDS. The range of clinical presentations spans from minor skin and joint looseness to severe …
Published in International Journal of Genetic Modifications and Recombinations · Vol. 2, Issue 1, 2024 · pp. 44–57 Read article
-
X - Chromosome Linked Rett Syndrome
Abstract: Rett Syndrome (RTT) is a genetic brain disorder which typically becomes apparent after 6 to 18 months of age in females synonymized as “Cerebroatrophic hyperammonemia”. It is due to genetic mutation of the MECP2 gene present on the X-chromosome. Develops as a new mutation with
Published in Research and Reviews: A Journal of Neuroscience Read article