Relation Between Genotype and Behavioral Phenotype in Children and Adolescents With Neurofibromatosis Type 1

CONCLUSION: In this large cohort, autism traits, ADHD characteristics, or global behavioral/emotional problems were not associated with NF1 variant type, effect, or location. These findings indicate that the NF1 variant classes examined here do not differentially influence the NF1 behavioral phenotype, although genotype-phenotype associations at the single-codon level cannot be ruled out.

via https://pubmed.ncbi.nlm.nih.gov/42846182/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1lqZ3NPYysePVKsoyz66mDSgu4veDGJwnUBS47TBQPoOuNZY5J&fc=None&ff=20261016011006&v=2.20.1


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