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Paper Details

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
56
2019
3-bp in-frame deletion, Met992del, NF1, NF1 constitutional c.2970, NF1 constitutional c.2970_2972del, NF1 gene, NF1 in-frame deletion, NF1 microsatellite, NF1 p.Met992del, NF1-associated tumors, Neurofibromatosis type 1, OPGs, astrocytomas, c, c.2970_2972del, cognitive impairment, cutaneous or subcutaneous neurofibromas, intragenic NF1 microsatellite markers, learning difficulties, learning disabilities, neurofibromas, nonoptic brain tumors, optic pathway gliomas, p, p., plexiform, plexiform, cutaneous, or subcutaneous neurofibromas, spinal neurofibromas, tumors
Author NameAffiliation
Felicity CollinsThe Children's Hospital at Westmead
Maria Cristina DigilioIRCCS
Robert ListernickNorthwestern University Feinberg School of Medicine
David T MillerBoston Children's Hospital
Michael F WanglerBaylor College of Medicine
Elaine H ZackaiChildren's Hospital of Philadelphia
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