NRXN1 (2p16.3) is essential for synaptic function and has been implicated in autism spectrum disorder (ASD) and other neurodevelopmental disorders. However, the phenotypic features associated with NRXN1 copy number variants remains incompletely characterised, which complicates risk assessment in genetic counselling. Th …
Objectives: This study aimed to explore the clinical, histopathological and demographic characteristics of female Omani breast cancer (BC) patients to identify possible predictors of a positive test result. Additionally, it aimed to evaluate the applicability of the National Comprehensive Cancer Network (NCCN) guidelin …
Congenital contractural arachnodactyly, commonly known as Beal’s syndrome, is an extremely rare genetic disorder caused by mutations in the fibrillin-2 (FBN2) gene located on chromosome 5q23. It is an autosomal dominant inherited connective tissue disorder characterised by a Marfan-like body habitus, contractures, abno …
Objectives: This study aimed to investigate the relationship between consanguinity and the severity of autism spectrum disorder (ASD), a neurodevelopmental condition influenced by both genetic and environmental factors. Methods: This retrospective study, conducted at the Genetic & Developmental Medicine Clinic at Sulta …