新发现的HNF1β基因杂合缺失——患有抗体阴性糖尿病、长期高血糖但无酮症、白内障、伴有皮质囊肿的小回声肾、胰腺萎缩、外分泌胰腺功能不全和子宫异常的青少年

L. Conwell, I. McGown
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Novel heterozygous deletion in the HNF1β gene - adolescent with antibody negative diabetes, longstanding hyperglycaemia without ketosis, cataracts, small echogenic kidneys with a cortical cyst, pancreatic atrophy, exocrine pancreatic insufficiency and a uterine anomaly
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