The diagnosis of the first-documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome.

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TitleThe diagnosis of the first-documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome.
Date2022-05-01
Issue nameClinical genetics
Issue numberv101.5-6:575-576
DOI10.1111/cge.14124
PubMed35191016
AuthorsMartorell L, Yubero D, Capdevila EC, Fernández Isern G, Salinas D, Mari Vico R, Rebollo M, Muchart J, Armstrong J & Ortigoza-Escobar JD
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