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

    November 2018 in “ American Journal of Medical Genetics Part A ”
    Lance H. Rodan, Kwame Anyane‐Yeboa, Karen Chong, Jolien S. Klein Wassink‐Ruiter, Ashley Wilson, Lacey Smith, Sanjeev V. Kothare, Farrah Rajabi, Susan Blasér, Min Ni, Ralph J. DeBerardinis, Annapurna Poduri, Gerard T. Berry

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