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References

These sources were used to develop the Genetics Home Reference condition summary on cri-du-chat syndrome.

Cerruti Mainardi P. Cri du Chat syndrome. Orphanet J Rare Dis. 2006 Sep 5;1:33. Review. PubMed citation
Cornish K, Bramble D. Cri du chat syndrome: genotype-phenotype correlations and recommendations for clinical management. Dev Med Child Neurol. 2002 Jul;44(7):494-7. Review. PubMed citation
Hills C, Moller JH, Finkelstein M, Lohr J, Schimmenti L. Cri du chat syndrome and congenital heart disease: a review of previously reported cases and presentation of an additional 21 cases from the Pediatric Cardiac Care Consortium. Pediatrics. 2006 May;117(5):e924-7. Epub 2006 Apr 3. PubMed citation
Mainardi PC, Pastore G, Castronovo C, Godi M, Guala A, Tamiazzo S, Provera S, Pierluigi M, Bricarelli FD. The natural history of Cri du Chat Syndrome. A report from the Italian Register. Eur J Med Genet. 2006 Sep-Oct;49(5):363-83. Epub 2006 Jan 13. PubMed citation
Mainardi PC, Perfumo C, Calė A, Coucourde G, Pastore G, Cavani S, Zara F, Overhauser J, Pierluigi M, Bricarelli FD. Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. J Med Genet. 2001 Mar;38(3):151-8. PubMed citation
Medina M, Marinescu RC, Overhauser J, Kosik KS. Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome. Genomics. 2000 Jan 15;63(2):157-64. PubMed citation
Sigafoos J, O'Reilly MF, Lancioni GE. Cri-du-chat. Dev Neurorehabil. 2009 Jun;12(3):119-21. doi: 10.1080/17518420902975720. PubMed citation
Wu Q, Niebuhr E, Yang H, Hansen L. Determination of the 'critical region' for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR. Eur J Hum Genet. 2005 Apr;13(4):475-85. PubMed citation
Zhang X, Snijders A, Segraves R, Zhang X, Niebuhr A, Albertson D, Yang H, Gray J, Niebuhr E, Bolund L, Pinkel D. High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization. Am J Hum Genet. 2005 Feb;76(2):312-26. Epub 2005 Jan 4. PubMed citation


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