Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities

Lance H. Rodan, Kwame Anyane-Yeboa, Karen Chong, Jolien S. Klein Wassink-Ruiter, Ashley Wilson, Lacey Smith, Sanjeev V. Kothare, Farrah Rajabi, Susan Blaser, Min Ni, Ralph J DeBerardinis, Annapurna Poduri, Gerard T. Berry

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Medicine & Life Sciences