<style face="normal" font="default" size="100%">Germline mutation in : a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation.</style>

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<style face="normal" font="default" size="100%">Germline mutation in : a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation.</style>

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17

<style face="normal" font="default" size="100%">Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.</style>

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<style face="normal" font="default" size="100%">Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases.</style>

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<style face="normal" font="default" size="100%">The phenotypic spectrum of Xia-Gibbs syndrome.</style>