Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.
Laumonnier, F.; Holbert, S.; Ronce, N.; Faravelli, F.; Lenzner, S.; Schwartz, C. E.; Lespinasse, J.; van Esch, H.; Lacombe, D.; Goizet, C.; Tuy, F. Phan-Dinh; van Bokhoven, H.; Fryns, J-P.; Chelly, J.; Ropers, H-H.; Moraine, C.; Hamel, B. C. J.; Briault, S.; Journal of Medical Genetics, 2005, vol. 42, issue 10, p 780, ISSN 00222593. ISBN 14686244.

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