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Title:

Biallelic variants in the ESCRT-II subunit SNF8 cause either early-onset lethal leukoencephalopathy or childhood onset optic atrophy

Document type:
Meeting Abstract
Author(s):
Brugger, Melanie; Zhen, Yan; Caporali, Leonardo; Brech, Andreas; Sorensen, Vigdis; Kopajtich, Robert; Zott, Benedikt; Kreiser, Kornelia; Strobl-Wildemann, Gertrud; Radio, Francesca Clementina; Lauri, Antonella; Carrozzo, Rosalba; Fiorini, Claudio; La Morgia, Chiara; Ziccardi, Lucia; Cordeddu, Viviana; Zampino, Giuseppe; Arelin, Maria; Blechschmidt, Christiane; Prokisch, Holger; Michaelson-Cohen, Rachel; Daum, Hagit; Abou Jamra, Rami; Arzberger, Thomas; Winkelmann, Juliane; Sekulic, Nikolina; Car...     »
Journal title abbreviation:
Eur J Hum Genet
Year:
2023
Journal volume:
31 Suppl 1
Pages contribution:
499-499
Print-ISSN:
1018-4813
TUM Institution:
Institut für Humangenetik (Prof. Winkelmann)
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