A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference19 articles.
1. Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader-Willi/Angelman syndrome critical region;Aypar;Am. J. Med. Genet. Part A,2014
2. Prader-Willi syndrome and Angelman syndrome;Buiting;Am. J. Med. Genet. Part C, Semin. Med. Genet.,2010
3. A novel Xq22.1 deletion in a male with multiple congenital abnormalities and respiratory failure;Cao;Eur. J. Med. Genet.,2016
4. Prader-Willi syndrome;Cassidy;Genet. Med. Off. J. Am. Coll. Med. Genet.,2012
5. Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome;Conroy;Am. J. Hum. Genet.,1997
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1. An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader–Willi Syndrome;Case Reports in Genetics;2023-09-13
2. Hormonal Imbalances in Prader–Willi and Schaaf–Yang Syndromes Imply the Evolution of Specific Regulation of Hypothalamic Neuroendocrine Function in Mammals;International Journal of Molecular Sciences;2023-08-23
3. Atypical 15q11.2-q13 Deletions and the Prader-Willi Phenotype;Journal of Clinical Medicine;2022-08-08
4. Proteins and proteases of Prader–Willi syndrome: a comprehensive review and perspectives;Bioscience Reports;2022-06
5. The paradox of Prader-Willi syndrome revisited: Making sense of the phenotype;eBioMedicine;2022-04
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