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Journal of Medical Genetics|August 30, 2008
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patientsC Zweier, H Sticht, E K Bijlsma, et al.American Journal of Human Genetics|June 18, 2005
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndromeD Beysen, J Raes, B P Leroy, et al.Journal of Medical Genetics|November 14, 1997
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative studyA K Ryan, J A Goodship, D I Wilson, et al.Journal of Medical Genetics|April 7, 2009
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and functionF Lacbawan, B D Solomon, E Roessler, et al.Pageof 10