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Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype

Hongzhu Chen, Niu Li, Yufei Xu, Guoqiang Li, Cui Song, Ruen Yao, Tingting Yu, Jian Wang, Lin Yang

2021Neurogenetics13 citationsDOI

Topics & Concepts

MicrocephalyMissense mutationCompound heterozygosityBiologyExome sequencingGeneticsHypoplasiaProbandPhenotypeExonMutationGeneAnatomyFetal and Pediatric Neurological DisordersPrenatal Screening and DiagnosticsGenetic Syndromes and Imprinting
Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype | Litcius