The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort.

Daad Alsowat,Robyn Whitney,Stacy Hewson,Puneet Jain,Valerie Chan,Nadia Kabir,Kimberly Amburgey,Damien Noone,Mathieu Lemaire,Blathnaid McCoy,Maria Zak

Child neurology open（2021）

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摘要

This is the first Canadian pediatric cohort exploring the genotype-phenotype relationship in TSC. We report that some manifestations are more frequent and severe in TSC2 mutations and that NMI may have a milder phenotype. Disease surveillance and counseling should continue regardless of genotype until this is better elucidated.

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关键词

genotype,no mutation identified (NMI),phenotype,surveillance,tuberous sclerosis complex (TSC)

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