Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder

Melanie Brugger,Theresa Brunet,Matias Wagner,Laura Elena Orec,Eva Maria Christina Schwaibold,Nikolas Boy

Gene（2021）

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摘要

•Locus heterogeneity in neurodevelopmental disorders complicates genetic diagnosis.•We report phenotypically similar siblings with intra-familial locus heterogeneity.•Comprehensive genetics may overcome the diagnostic pitfall of locus heterogeneity.

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关键词

ASD,CCDS,CGH,CNV,DD,ES,ID,Kb,MAF,Mb,MR(S),SNV

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