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Keywords: ULK4 gene
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Journal Articles
Subject Area:
Genetics
Elisa Tassano, Sara Uccella, Thea Giacomini, Pasquale Striano, Mariasavina Severino, Simona Porta, Giorgio Gimelli, Patrizia Ronchetto
Journal:
Cytogenetic and Genome Research
Cytogenet Genome Res (2018) 156 (1): 14–21.
Published Online: 08 August 2018
... impairment, epilepsy, autistic features, hearing loss, and obesity. Array-CGH analysis demonstrated 2 rare CNVs in both siblings: a paternally inherited microdeletion of ∼145 kb at 3p22.1, disrupting the ULK4 gene, and a maternally inherited microduplication of ∼117 kb at Xq21.1 including only the BRWD3 gene...
