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Updated: Jan 16, 2026

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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MODY5和17q12微删除综合征:表型变异,产前和产后咨询

Paolo Fontana1, Claudia Costabile2, Mariateresa Falco1

  • 1Medical Genetics Unit, P.O. Gaetano Rummo, A.O.R.N. San Pio, 82100 Benevento, Italy.

Genes
|September 27, 2025
PubMed
概括

年轻人发病5型糖尿病 (MODY5) 源于HNF1B基因变异,导致糖尿病和脏问题. 17q12微切除综合征是常见的原因,呈现复杂的表型,需要早期诊断.

关键词:
17q12 删除 删除 删除这就是HNF1B.在MODY5中,我们使用了MODY5.神经发育障碍 神经发育障碍多囊性脏 多囊性脏在产前诊断 产前诊断

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