Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.

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Authors: Dingemans AJM, Truijen KMG, Kim JH, Alaçam Z, Faivre L, Collins KM, Gerkes EH, van Haelst M, van de Laar IMBH, Lindstrom K, Nizon M, Pauling J, Heropolitańska-Pliszka E, Plomp AS, Racine C, Sachdev R, Sinnema M, Skranes J, Veenstra-Knol HE, Verberne EA, Vulto-van Silfhout AT, Wilsterman MEF, Ahn EE, de Vries BBA, Vissers LELM.

Journal title: European Journal of Human Genetics

Journal publisher: Natue Publishing Group

Published year: 2022

DOI identifier: 10.1038/s41431-021-00960-4

ISSN: 1018-4813