De novo mutation of the TSC2 gene in patient with Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) Phenotype: a case report
Sign Up to like & getrecommendations! Published in 2023 at "Annals of Medicine and Surgery"
DOI: 10.1097/ms9.0000000000000489
Abstract: Introduction: Tuberous sclerosis complex (TSC) is a neurocutaneous disease caused by a mutation in the TSC1 or TSC2 gene. There are several neuropsychiatric manifestations associated with TSC known as TSC-associated neuropsychiatric disorder (TAND). This article… read more here.
Keywords: novo mutation; tsc2 gene; mutation; tuberous sclerosis ... See more keywords
Decoding of novel missense TSC2 gene variants using in-silico methods
Sign Up to like & getrecommendations! Published in 2019 at "BMC Medical Genetics"
DOI: 10.1186/s12881-019-0891-y
Abstract: BackgroundMutations in TSC1 or TSC2 gene cause tuberous sclerosis complex (TSC), an autosomal dominant disorder characterized by the formation of non-malignant hamartomas in multiple vital organs. TSC1 and TSC2 gene products form TSC heterodimer that… read more here.
Keywords: protein; novel missense; tsc1 tsc2; tsc2 gene ... See more keywords
[Novel mutation in TSC2 gene in pediatric patient with clinical diagnosis of tuberous sclerosis].
Sign Up to like & getrecommendations! Published in 2017 at "Archivos argentinos de pediatria"
DOI: 10.5546/aap.2017.e287
Abstract: Tuberous sclerosis complex (TSC) is a neurocutaneous autosomal dominant disorder that results from mutations within either the TSC1 gene or the TSC2 gene. Diagnosis is based on well-established clinical criteria or genetic criteria. Clinical features… read more here.
Keywords: tuberous sclerosis; diagnosis; tsc2 gene; gene ... See more keywords