Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis
Villa O, Del Campo M, Salido M, Gener B, Astier L, Del Valle J, Gallastegui F, Pérez-Jurado LA, Solé F. Am J Med Genet A. 2007 May 15;143A(10):1108-13
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Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)
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Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin
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Severe haemophilia A in a female resulting from an inherited gross deletion and a de novo codon deletion in the F8 gene
Venceslá A, Fuentes-Prior P, Baena M, Quintana M, Baiget M, Tizzano EF. Haemophilia. 2008 Sep;14(5):1094-8. Epub 2008 Jul 25. Review
