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(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith-Wiedemann syndrome.
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2020-07-06 , DOI: 10.1002/mgg3.1386 Laura Fontana 1, 2 , Maria F Bedeschi 3 , Giulia A Cagnoli 3 , Jole Costanza 2 , Nicola Persico 4, 5 , Silvana Gangi 6 , Matteo Porro 7 , Paola F Ajmone 8 , Patrizia Colapietro 1, 2 , Carlo Santaniello 2 , Milena Crippa 9 , Silvia M Sirchia 10 , Monica Miozzo 1, 2 , Silvia Tabano 1, 11
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2020-07-06 , DOI: 10.1002/mgg3.1386 Laura Fontana 1, 2 , Maria F Bedeschi 3 , Giulia A Cagnoli 3 , Jole Costanza 2 , Nicola Persico 4, 5 , Silvana Gangi 6 , Matteo Porro 7 , Paola F Ajmone 8 , Patrizia Colapietro 1, 2 , Carlo Santaniello 2 , Milena Crippa 9 , Silvia M Sirchia 10 , Monica Miozzo 1, 2 , Silvia Tabano 1, 11
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Beckwith–Wiedemann syndrome (BWS) is an overgrowth disorder caused by defects at the 11p15.5 imprinted region. Many cases of female monozygotic (MZ) twins discordant for BWS have been reported, but no definitive conclusions have been drawn regarding the link between epigenetic defects, twinning process, and gender. Here, we report a comprehensive characterization and follow‐up of female MZ twins discordant for BWS.
中文翻译：
女性单卵双胞胎与Beckwith-Wiedemann综合征不一致的胚胎外和产后组织的（Epi）遗传分析。
Beckwith–Wiedemann综合征（BWS）是一种过度生长的疾病，由11p15.5印迹区域的缺陷引起。据报道，许多女性单卵双胎（MZ）双胞胎与BWS不一致，但没有关于表观遗传缺陷，孪生过程和性别之间联系的明确结论。在这里，我们报告了与BWS不和谐的女性MZ双胞胎的全面特征和随访情况。
更新日期：2020-09-14
中文翻译：
女性单卵双胞胎与Beckwith-Wiedemann综合征不一致的胚胎外和产后组织的（Epi）遗传分析。
Beckwith–Wiedemann综合征（BWS）是一种过度生长的疾病，由11p15.5印迹区域的缺陷引起。据报道，许多女性单卵双胎（MZ）双胞胎与BWS不一致，但没有关于表观遗传缺陷，孪生过程和性别之间联系的明确结论。在这里，我们报告了与BWS不和谐的女性MZ双胞胎的全面特征和随访情况。
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