Tuberous sclerosis in pregnancy: a rare genetic disease requiring multidisciplinary approach in pregnancy

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dc.contributor.authorMadan, Shikhaen_US
dc.contributor.authorKumar, Pardeepen_US
dc.contributor.authorAnand, Smritien_US
dc.contributor.authorSinghal, Savitaen_US
dc.contributor.authorSangwan, Neetuen_US
dc.contributor.authorDalal, Monikaen_US
dc.date.accessioned2020-10-16T08:05:56Z
dc.date.available2020-10-16T08:05:56Z
dc.date.issued2020-07
dc.description.abstractTuberous sclerosis complex (TSC) is a multisystemic, autosomal dominant genetic disorder with complete penetrance, that can evolve with hamartomas in multiple organs, such as skin, central nervous system, kidney and lung. Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (the genotype) that also express an associated trait (the phenotype). Due to the wide phenotypic variability in TSC, the disease is often not recognized. The diagnostic criteria for tuberous sclerosis were reviewed in 2012, at the second International tuberous sclerosis complex consensus conference. The diagnosis is based on genetic criteria, by the identification of inactivating pathogenic mutation of tumour suppressor genes TSC1 and TSC2, and clinical criteria, including cutaneous, renal, pulmonary, cardiac and neurological manifestations. Authors present with a rare case report of a patient with TSC presenting at term.en_US
dc.identifier.affiliationsDepartment of Obstetrics and Gynecology, PGIMS, Rohtak, Haryana, Indiaen_US
dc.identifier.affiliationsDepartment of Anaesthesia, PGIMS, Rohtak, Haryana, Indiaen_US
dc.identifier.citationMadan Shikha, Kumar Pardeep, Anand Smriti, Singhal Savita, Sangwan Neetu, Dalal Monika. Tuberous sclerosis in pregnancy: a rare genetic disease requiring multidisciplinary approach in pregnancy. International Journal of Reproduction, Contraception, Obstetrics and Gynecology. 2020 Jul; 9(7): 3075-3077en_US
dc.identifier.issn2320-1770
dc.identifier.issn2320-1789
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/207894
dc.languageenen_US
dc.publisherMedip Academyen_US
dc.relation.issuenumber7en_US
dc.relation.volume9en_US
dc.source.urihttps://dx.doi.org/10.18203/2320-1770.ijrcog20202763en_US
dc.subjectAngiofibromen_US
dc.subjectTuberous sclerosis complexen_US
dc.titleTuberous sclerosis in pregnancy: a rare genetic disease requiring multidisciplinary approach in pregnancyen_US
dc.typeJournal Articleen_US
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