Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/article/10.1186/s12920-015-0113-1/fulltext.html
Reference37 articles.
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3. Barch MJ, Knutsen T, Spurbeck KL: AGT Cytogenetics Laboratory Manual. 3rd ed. Philadelphia: Lippincott Williams & Wilkins; 1997.
4. Beby F, Des Portes V, Till M, Mottolese C, Denis P. Chromosome 6p25 deletion syndrome: report of a case with optic disc coloboma and review of published ophthalmic findings. Ophthalmic Genet. 2012;33(4):240–8.
5. Caluseriu O, Mirza G, Ragoussis J, Chow EW, MacCrimmon D, Bassett AS. Schizophrenia in an adult with 6p25 deletion syndrome. Am J Med Genet A. 2006;140(11):1208–13.
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5. More than meets the eye: Palmoplantar keratoderma and arrhythmogenic right ventricular cardiomyopathy in a patient with loss of the DSP gene;JAAD Case Reports;2020-09
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