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De Novo Variants in ATXN7L3 Lead to Developmental Delay, Hypotonia and Distinctive Facial Features.

Tamar Harel, Camille Spicher,Elisabeth Scheer,Jillian G. Buchan, Jennifer Cech,Chiara Folland,Tanja Frey,Alexander M. Holtz,A. Micheil Innes,Boris Keren,William L. Macken,Carlo Marcelis,Catherine E. Otten, Sarah A. Paolucci,Florence Petit,Rolph Pfundt,Robert D. S. Pitceathly,Anita Rauch,Gianina Ravenscroft, Rani Sanchev,Katharina Steindl,Femke Tammer,Amanda Tyndall,Didier Devys,Stephane D. Vincent,Orly Elpeleg,Laszlo Tora

BRAIN（2024）

Cited 0|Views23
Key words
SAGA complex,deubiquitination,exome sequencing,developmental delay,intellectual disability
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