Laboratory Testing for Prader-Willi Syndrome
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Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-030-98171-6_3
Reference54 articles.
1. Ledbetter DH, Riccardi VM, Airhart SD, Strobel RJ, Keenan BS, Crawford JD. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med. 1981;304(6):325–9. https://doi.org/10.1056/NEJM198102053040604.
2. Nicholls RD, Knoll JH, Butler MG, Karam S, Lalande M. Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature. 1989;342(6247):281–5. https://doi.org/10.1038/342281a0.
3. Smith A, Lindeman R, Volpato F, Kearney A, White S, Haan E, et al. A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome. Hum Genet. 1991;86(5):534–6. https://doi.org/10.1007/BF00194651.
4. Schulze A, Hansen C, Skakkebaek NE, Brondum-Nielsen K, Ledbeter DH, Tommerup N. Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint. Nat Genet. 1996;12(4):452–4. https://doi.org/10.1038/ng0496-452.
5. Sun Y, Nicholls RD, Butler MG, Saitoh S, Hainline BE, Palmer CG. Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient. Hum Mol Genet. 1996;5(4):517–24. https://doi.org/10.1093/hmg/5.4.517.
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