Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures

Overview of attention for article published in American Journal of Human Genetics, June 2025

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10 families with recurrent de novo missense variants in CRNKL1 linked to severe microcephaly & pontocerebellar hypoplasia. Key insight: spliceosomal mutations drive tissue-specific phenotypes! #Genomics PMID:40857589, Am J Hum Genet 2025, @AJHGNews http…

RT @AJHGNews: 📣New from Bicknell & colleagues! 📄Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe mic…

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