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Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction

Document Type

Article

Author

Garret, P.; Delplancq, G.; Duffourd, Y.; Duplomb, L.; Thauvin-Robinet, C.; Faivre, L.; Vitobello, A.; Boughalem, A.; Costa, J.-M.; Trost, D.; Ebstein, F.; Klafack, S.; Zieba, B.A.; Krüger, E.; Dozieres-Puyravel, B.; Auvin, S.; Verloes, A.; Mahmoudi, S.; Singh, K.K.

Source

In: Clinical Genetics. (Clinical Genetics, 1 April 2020, 97(4):567-575)

Subject

Language

English

ISSN

13990004
00099163

Online Access

Full Text (Wiley Journals) Full Text (Wiley-DB) Web of Science JCR 저널정보 Scopus Find it@PNU

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