Associated Papers
Dual Diagnosis of Sifrim-Hitz-Weiss Syndrome and Neurofibromatosis Type 1: Expanding the Phenotype of Cardiac Features in Sifrim-Hitz-Weiss Syndrome and Quick Literature Review.
Babazade A et al.
American Journal of Medical Genetics. Part A, 2025
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › NF1
Children with 5'-end NF1 gene mutations are more likely to have glioma.
Anastasaki C et al.
Neurology. Genetics, 2017
28955729 (PubMed )
Supplement: supp_3.5.e192_NG_2017_005934R1_Supplementary_Data.pdf
Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.
Pros E et al.
Human Mutation, 2008
Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.
Ars E et al.
Journal of Medical Genetics, 2003
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