Maternal Uniparental Disomy of Chromosome 15 and Concomitant STRC and CATSPER2 Deletion-mediated Deafness-infertility Syndrome
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References
1.
Gunay-Aygun M, Schwartz S, Heeger S, ORiordan M, Cassidy S
. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics. 2001; 108(5):E92.
DOI: 10.1542/peds.108.5.e92.
View
2.
King J, Dexter A, Gadi I, Zvereff V, Martin M, Bloom M
. Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report. J Genet Couns. 2014; 23(5):734-41.
DOI: 10.1007/s10897-014-9720-9.
View
3.
Butler M, Fischer W, Kibiryeva N, Bittel D
. Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome. Am J Med Genet A. 2008; 146A(7):854-60.
PMC: 5438264.
DOI: 10.1002/ajmg.a.32249.
View
4.
Cho S, Goh D, Lau K, Ong H, Lam C
. Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency. Clin Chim Acta. 2013; 426:13-7.
DOI: 10.1016/j.cca.2013.08.013.
View
5.
Cassidy S, Lai L, Erickson R, Magnuson L, Thomas E, Gendron R
. Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy. Am J Hum Genet. 1992; 51(4):701-8.
PMC: 1682792.
View