The C20orf133 gene is disrupted in a patient with Kabuki syndrome.
Maas, Nicole M. C.; van de Putte, Tom; Melotte, Cindy; Francis, Annick; Schrander-Stumpel, Constance T. R. M.; Sanlaville, Damien; Genevieve, David; Lyonnet, Stanislas; Dimitrov, Boyan; Devriendt, Koenraad; Jean-Pierre Fryns; Vermeesch, Joris R.; Journal of Medical Genetics, 2007, vol. 44, issue 9, p 562, ISSN 00222593. ISBN 14686244.

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