Associated Papers
Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing.
Xu J et al.
Bmc Pediatrics, 2024
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
[Molecular diagnosis of children with unexplained intellectual disability/ developmental delay by array-CGH].
He XY et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015
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