作者
Maria Yakoreva, Tiina Kahre, Riina Žordania, Karit Reinson, Rita Teek, Vallo Tillmann, Aleksandr Peet, Eve Õiglane-Shlik, Sander Pajusalu, Ülle Murumets, Mari-Anne Vals, Pille Mee, Monica H Wojcik, Katrin Õunap
发表日期
2019/11
期刊
European Journal of Human Genetics
卷号
27
期号
11
页码范围
1649-1658
出版商
Springer International Publishing
简介
Imprinting disorders (ImpDis) represent a small group of rare congenital diseases primarily affecting growth, development, and the hormonal and metabolic systems. The aim of present study was to identify the prevalence of the ImpDis in Estonia, to describe trends in the live birth prevalence of these disorders between 1998 and 2016, and to compare the results with previously published data. We retrospectively reviewed the records of all Estonian patients since 1998 with both molecularly and clinically diagnosed ImpDis. A prospective study was also conducted, in which all patients with clinical suspicion for an ImpDis were molecularly analyzed. Eighty-seven individuals with ImpDis were identified. Twenty-seven (31%) of them had Prader–Willi syndrome (PWS), 15 (17%) had Angelman syndrome (AS), 15 (17%) had Silver–Russell syndrome (SRS), 12 (14%) had Beckwith–Wiedemann syndrome (BWS), 10 (11 …
引用总数
201920202021202220232024149593
学术搜索中的文章
M Yakoreva, T Kahre, R Žordania, K Reinson, R Teek… - European Journal of Human Genetics, 2019