Neurodevelopmental disorders with periventricular nodular heterotopia (PNH) are etiologically heterogeneous, and their genetic causes remain in many cases unknown.
Mutations in the HECT domain of NEDD4L lead to AKT - m Tor pathway deregulation and cause periventricular nodular heterotopia / Broix L, J.H., Deciphering Developmental Disorders study, M.M.. - In: NATURE GENETICS. - ISSN 1546-1718. - ELETTRONICO. - (2016), pp. 1349-1358. [10.1038/ng.3676]
Mutations in the HECT domain of NEDD4L lead to AKT - m Tor pathway deregulation and cause periventricular nodular heterotopia
Guerrini R;
2016
Abstract
Neurodevelopmental disorders with periventricular nodular heterotopia (PNH) are etiologically heterogeneous, and their genetic causes remain in many cases unknown.
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