期刊
ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS
卷 -, 期 -, 页码 -出版社
BIOSCIENTIFICA LTD
DOI: 10.1530/EDM-16-0133
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HNF4A gene mutations have been reported in cases of transient and persistent hyperinsulinaemic hypoglycaemia of infancy (HHI), particularly in families with adulthood diabetes. The case of a patient with HHI, liver impairment and renal tubulopathy due to a mutation in HNF4A is reported.
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