Four Hypotrichosis Families With Mutations in the Gene LSS Presenting With and Without Neurodevelopmental Phenotypes
July 2021
in “
American Journal of Medical Genetics Part A
”
Studysummary This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.
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