Associated Papers
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.
Lehalle D et al.
Journal of Medical Genetics, 2020
TFE3-associated neurodevelopmental disorder: A distinct recognizable syndrome.
Diaz J et al.
American Journal of Medical Genetics. Part A, 2020
Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.
Villegas F et al.
Cell Stem Cell, 2019
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