TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

TANGO2-related disorders were first described in 2016 and prior to this publication, only 15 individuals with TANGO2-related disorder were described in the literature. Primary features include metabolic crisis with rhabdomyolysis, encephalopathy, intellectual disability, seizures, and cardiac arrhyt...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Hoofdauteurs: Jennifer N. Dines, Katie Golden‐Grant, Amy Lacroix, Alison M. Muir, Dianne Laboy Cintrón, Kirsty McWalter, Megan T. Cho, Angela Sun, J. Lawrence Merritt, Jenny Thies, Dmitriy Niyazov, Barbara K. Burton, Katherine Kim, Leah R. Fleming, Rachel Westman, Peter Karachunski, Joline Dalton, Alice Basinger, Can Fıçıcıoğlu, Ingo Helbig, Manuela Pendziwiat, Hiltrud Muhle, Katherine L. Helbig, Almuth Caliebe, René Santer, Kolja Becker, Sharon F. Suchy, Ganka Douglas, Francisca Millan, Amber Begtrup, Kristin G. Monaghan, Heather C. Mefford
Formaat: Artigo
Taal:Engels
Gepubliceerd in: 2018
Online toegang:https://doi.org/10.1038/s41436-018-0137-y
http://www.gimjournal.org/article/S1098360021010418/pdf
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Internet

https://doi.org/10.1038/s41436-018-0137-y
http://www.gimjournal.org/article/S1098360021010418/pdf

Gelijkaardige items