Severe cognitive impairment and early-onset epilepsy in six patients with the de novo p.Glu590Lys variant of CUX2

N. Chatron, R. S. Moller, N. L. Champaigne, A. Kuechler, A. Labalme, L. Baggett, D. Wieczorek, V. des Portes, P. Edery, E. Gardella, I. E. Scheffer, H. Mefford, D. Sanlaville, G. L. Carvill, G. Lesca

Publikation: Bidrag til tidsskriftKonferenceabstrakt i tidsskriftForskning

OriginalsprogEngelsk
ArtikelnummerP09.042B
TidsskriftEuropean Journal of Human Genetics
Vol/bind26
Sider (fra-til)380-381
Antal sider2
ISSN1018-4813
StatusUdgivet - okt. 2018
Begivenhed50th European Human Genetics Conference: Anniversary Meeting - Bella Center, Center Blvd. 5, Copenhagen, Danmark
Varighed: 27. maj 201730. maj 2017
Konferencens nummer: 50
https://2017.eshg.org/

Konference

Konference50th European Human Genetics Conference
Nummer50
LokationBella Center, Center Blvd. 5
LandDanmark
ByCopenhagen
Periode27/05/201730/05/2017
Internetadresse

Bibliografisk note

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, DENMARK, MAY 27-30, 2017

Citationsformater