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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Am J Med Genet A. 2021 Jun;185(6):1649-1665. doi: 10.1002/ajmg.a.62124. Epub 2021 Mar 30.
Am J Med Genet A. 2021.
PMID: 33783954
Free PMC article.
Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss-of-function disorder, a SWI/SNF-related intellectual disability.
Khazanchi R, Ronspies CA, Smith SC, Starr LJ.
Khazanchi R, et al. Among authors: ronspies ca.
Am J Med Genet A. 2019 May;179(5):808-812. doi: 10.1002/ajmg.a.61075. Epub 2019 Mar 5.
Am J Med Genet A. 2019.
PMID: 30838730
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