Prenatal diagnosis of fetuses with 15q11.2 BP1-BP2 microdeletion in the Chinese population: a seven-year single-center retrospective study
Author:
Funder
Quanzhou City Science and Technology Program
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1186/s13039-024-00690-4.pdf
Reference34 articles.
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2. Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Prader-Willi syndrome. Genet Med. 2012;14(1):10–26.
3. Butler MG, Kimonis V, Dykens E, et al. Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: a review of natural history study. Am J Med Genet A. 2018;176(2):368–75.
4. Williams CA, Driscoll DJ, Dagli AI. Clinical and genetic aspects of Angelman syndrome. Genet Med. 2010;12(7):385–95.
5. Chai JH, Locke DP, Greally JM, et al. Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. Am J Hum Genet. 2003;73(4):898–925.
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