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. 2021 Jun;185(6):1922-1924.
doi: 10.1002/ajmg.a.62159. Epub 2021 Mar 5.

Birt-Hogg-Dubé symptoms in Smith-Magenis syndrome include pediatric-onset pneumothorax

Brenda Finucane  1 , Juliann M Savatt  1 , Hermela Shimelis  1 , Santhosh Girirajan  2 , Scott M Myers  1
Affiliations

Birt-Hogg-Dubé symptoms in Smith-Magenis syndrome include pediatric-onset pneumothorax

Brenda Finucane et al. Am J Med Genet A. 2021 Jun.
No abstract available

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References

    1. Birt AR, Hogg GR, & Dubé WJ (1977). Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. JAMA Dermatology, 113(12), 1674–1677. 10.1001/archderm.1977.01640120042005 - DOI - PubMed
    1. Dardour L, Verleyen P, Lesage K, Holvoet M, & Devriendt K (2016). Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene. European Journal of Medical Genetics, 59(10), 499–501. 10.1016/j.ejmg.2016.09.005 - DOI - PubMed
    1. Edelman EA, Girirajan S, Finucane B, Patel PI, Lupski JR, Smith AC, & Elsea SH (2007). Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases. Clinical Genetics, 71(6), 540–550. 10.1111/j.1399-0004.2007.00815.x - DOI - PubMed
    1. Elsea SH, & Williams SR (2011). Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways. Expert Reviews in Molecular Medicine, 13, e14. 10.1017/S1462399411001827 - DOI - PubMed
    1. Finucane B & Haas-Givler B (2009). Smith-Magenis syndrome: Genetic basis and clinical implications. Journal of Mental Health Research in Intellectual Disabilities, 2(2), 134–148. 10.1080/19315860802627619 - DOI

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