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Rodan LH, Anyane‐Yeboa K, Chong K, Klein Wassink‐Ruiter JS, Wilson A, Smith L, Kothare SV, Rajabi F, Blaser S, Ni M, DeBerardinis RJ, Poduri A, Berry GT. Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities. American J of Med Genetics Pt A. 2018 Nov 26;176(12):2554–60. doi: 10.1002/ajmg.a.60677. |