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Relapsed 6q24-related transient neonatal diabetes mellitus successfully treated with sulfonylurea 被引量:3

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摘要 To the Editor:Neonatal diabetes mellitus(NDM)is defined as diabetes diagnosed within 6 months after birth and occurs in approximately one in every 90,000 to 160,000 live births,with an 80%yield due to a known genetic diagnosis.NDM can be classified as transient(TNDM),permanent(PNDM),or syndromic,in which TNDM accounts for approximately 45%of all cases of NDM.Overexpression of genes on chromosome 6q24 is the most common cause of TNDM(OMIM_601410),which accounts for approximately 70%of all cases and occurs by one of three mechanisms:(1)paternal uniparental disomy(41%),(2)duplication of paternal alleles(33%),or(3)hypomethylation of the maternal allele(26%)[1].
出处 《Chinese Medical Journal》 SCIE CAS CSCD 2019年第7期846-848,共3页 中华医学杂志(英文版)
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