First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel variant c.118G>C p.(Glu40Gln)

• المؤلفون الرئيسيون: Cha Gon Lee (مؤلف), Ja-Hyun Jang (مؤلف), Ji-Young Seo (مؤلف)
• التنسيق: كتاب
• منشور في: Korean Society of Pediatric Endocrinology, 2019-12-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: Connect to this object online.

Tatton-Brown-Rahman Syndrome (TBRS), an overgrowth syndrome caused by heterozygous mutation of DNMT3A, first was described in 2014. Approximately 60 DNMT3A variants, including 32 missense variants, have been reported, with most missense mutations located on the DNMT3A functional domains. Autosomal d...