Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1).
Kleefstra, T.; Franken, C. E.; Arens, Y. H. J. M.; Ramakers, G. J. A.; Yntema, H. G.; Sistermans, E. A.; Hulsmans, C. F. C. H.; Nillesen, W. N.; van Bokhoven, H.; de Vries, B. B. A.; Hamel, B. C. J.; Clinical Genetics, 2004, vol. 66, issue 4, p 318, ISSN 00099163. ISBN 00099163.

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