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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

Full title: 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

Author/creator: Koczkowska, M, Callens, T, Gomes, A, Sharp, A, Chen, YJ, Hicks, AD, Oostenbrink, Rianne, van Minkelen, Rick, Legius, E, Messiaen, LM.

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Record Identifier: TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6752285

Language: English

Formats: Articles

Publishers: United States: Elsevier Limited

Permalink: https://collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6752285

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    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

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    TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6752285

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    https://collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6752285

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    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

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    https://collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6752285

    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

    Full title

    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

    Author / Creator

    Koczkowska, M ; Callens, T ; Gomes, A ; Sharp, A ; Chen, YJ ; Hicks, AD ; Oostenbrink, Rianne ; van Minkelen, Rick ; Legius, E ; Messiaen, LM

    Publisher

    United States: Elsevier Limited

    Journal title

    Genetics in medicine, 2019, Vol.21 (4), p.867-876

    Record Identifier

    TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6752285

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    English

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    Articles

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    Adolescent Adult Brain cancer Child Child, Preschool Female Genetic Association Studies Genetic Predisposition to Disease Genotype & phenotype genotype–phenotype correlation Heterozygote Humans Infant learning difficulties Learning Disabilities - genetics Learning Disabilities - physiopathology Male Mutation, Missense - genetics neurofibroma Neurofibroma, Plexiform - genetics Neurofibroma, Plexiform - physiopathology Neurofibromatosis 1 - genetics Neurofibromatosis 1 - pathology Neurofibromin 1 - genetics NF1 p.Met992del Sequence Deletion Young Adult

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    TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6752285

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    https://collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6752285

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