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Case Reports
. 2020 Apr;29(2):101-103.
doi: 10.1097/MCD.0000000000000296.

Dual genetic diagnoses: neurofibromatosis type 1 and KBG syndrome

Paola Cianci  1 , Laura Pezzoli  2 , Silvia Maitz  3 , Massimo Agosti  1 , Maria Iascone  2 , Angelo Selicorni  4
Affiliations
Case Reports

Dual genetic diagnoses: neurofibromatosis type 1 and KBG syndrome

Paola Cianci et al. Clin Dysmorphol. 2020 Apr.
No abstract available

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References

    1. Clementi M, Milani S, Mammi I, Boni S, Monciotti C, Tenconi R. Neurofibromatosis type 1 growth charts. Am J Med Genet. 1999; 87:317–323
    1. Kehrer-Sawatzki H, Mautner VF, Cooper DN. Emerging genotype-phenotype relationships in patients with large NF1 deletions. Hum Genet. 2017; 136:349–376
    1. Kurolap A, Orenstein N, Kedar I, Weisz Hubshman M, Tiosano D, Mory A, et al. Is one diagnosis the whole story? Patients with double diagnoses. Am J Med Genet A. 2016; 170:2338–2348
    1. Morel Swols D, Foster J II, Tekin M. KBG syndrome. Orphanet J Rare Dis. 2017; 12:183
    1. Ning X, Farschtschi S, Jones A, Kehrer-Sawatzki H, Mautner VF, Friedman JM. Growth in neurofibromatosis 1 microdeletion patients. Clin Genet. 2016; 89:351–354

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