Transient neonatal diabetes mellitus with macroglossia diagnosed by methylation specific PCR (MS-PCR)

Transient neonatal diabetes mellitus (TNDM) has been associated with paternal uniparental isodisomy of chromosome 6, paternally inherited duplication of 6q24, or a methylation defect at a CpG island of the ZAC or HYMAI gene. We experienced a case of TNDM in which the patient presented with hyperglyc...

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Bibliografski detalji
Glavni autori: Hye Young Jin, Jin-Ho Choi, Gu-Hwan Kim, Han-Wook Yoo
Format: Članak
Jezik:English
Izdano: Korean Pediatric Society 2010-03-01
Serija:Korean Journal of Pediatrics
Online pristup:http://www.kjp.or.kr/upload/2010530322-20100443174543.PDF