Alkuraya-Kucinskas syndrome: novel compound heterozygous KIAA1109 variants in two siblings with this recently delineated disorder of brain development

Matina Prapa, Suzanna Dunkerton, Jeremy Brockelsby,Nishigandh Deole, Pooja Harijan, Marion Bohatschek,Elspeth Whitby,Joan Paterson,Soo-Mi Park,Sarju G. Mehta

EUROPEAN JOURNAL OF HUMAN GENETICS(2022)

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