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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. [electronic resource] by
Producer: 20160726 In: Human mutation vol. 36
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Correction: 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. [electronic resource] by
Publication details: Genetics in medicine : official journal of the American College of Medical Genetics 03 2019
In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21
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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. [electronic resource] by
Producer: 20190618 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21
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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. [electronic resource] by
Producer: 20181211 In: American journal of human genetics vol. 102
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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. [electronic resource] by
Producer: 20210519 In: Human mutation vol. 41
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