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ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder

Autor: Stephen T. McGarvey, Daniel D. Nguyen, Shaya S. Eftekharian, Daniel E. Weeks, Sha Tang, Mariella Simon, Sacha Ferdinandusse, Muagututia Sefuiva Reupena, David Dimmock, Take Naseri, Jose E. Abdenur, Frédéric M. Vaz, James Pitt, Ryan L. Minster, Sansan Lee, Katarzyna A. Ellsworth

Publikováno v: American Journal of Medical Genetics. Part a
American journal of medical genetics. Part A, 185(1), 157-167. Wiley-Liss Inc.

Mutations in the short‐chain enoyl‐CoA hydratase (SCEH) gene, ECHS1, cause a rare autosomal recessive disorder of valine catabolism. Patients usually present with developmental delay, regression, dystonia, feeding difficulties, and abnormal MRI w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a22f434ad33fbe033081acfb7869f48
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85094115093&origin=inward

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing

Autor: GÜRAN, TÜLAY

Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that can present with nonspecific features and can be difficult to diagnose. We undertook next generation sequencing in a cohort of children and young adults with PAI of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3098::593e86612f2f54e3438c5802056dacec
https://hdl.handle.net/11424/243983

Predicted benign and synonymous variants in CYP11A1 cause primary adrenal insufficiency through missplicing

Autor: Maharaj, Avinaash, Buonocore, Federica, Meimaridou, Eirini, Ruiz-Babot, Gerard, Guasti, Leonardo, Peng, Hwei Ming, Capper, Cameron P., Burgos-Tirado, Neikelyn, Prasad, Rathi, Hughes, Claire R., Maudhoo, Ashwini, Crowne, Elizabeth, Cheetham, Timothy D., Brain, Caroline E., Suntharalingham, Jenifer P., Striglioni, Niccolò, Yuksel, Bilgin, Gurbuz, Fatih, Gupta, Sangay, Lindsay, Robert, Couch, Robert, Spoudeas, Helen A., Guran, Tulay, Johnson, Stephanie, Fowler, Dallas J., Conwell, Louise S., McInerney-Leo, Aideen M., Drui, Delphine, Cariou, Bertrand, Lopez-Siguero, Juan P., Harris, Mark, Duncan, Emma L., Hindmarsh, Peter C., Auchus, Richard J., Donaldson, Malcolm D., Achermann, John C., Metherell, Louise A.

Publikováno v: Maharaj, A, Buonocore, F, Meimaridou, E, Ruiz-Babot, G, Guasti, L, Peng, H M, Capper, C P, Burgos-Tirado, N, Prasad, R, Hughes, C R, Maudhoo, A, Crowne, E, Cheetham, T D, Brain, C E, Suntharalingham, J P, Striglioni, N, Yuksel, B, Gurbuz, F, Gupta, S, Lindsay, R, Couch, R, Spoudeas, H A, Guran, T, Johnson, S, Fowler, D J, Conwell, L S, McInerney-Leo, A M, Drui, D, Cariou, B, Lopez-Siguero, J P, Harris, M, Duncan, E L, Hindmarsh, P C, Auchus, R J, Donaldson, M D, Achermann, J C & Metherell, L A 2019, ' Predicted benign and synonymous variants in CYP11A1 cause primary adrenal insufficiency through missplicing ', Journal of the Endocrine Society, vol. 3, no. 1, pp. 201-221 . https://doi.org/10.1210/js.2018-00130

Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that can present with nonspecific features and can be difficult to diagnose. We undertook next generation sequencing in a cohort of children and young adults with PAI of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::aad977e1cd6cce8fd909cfa021bf2e0d

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