A case of transient neonatal diabetes due to a novel mutation in <i>ABCC8</i>
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چکیده
منابع مشابه
A case of transient neonatal diabetes due to a novel mutation in ABCC8
Masaki Takagi1, 2, Ryojun Takeda3, Hiroko Yagi4, Daisuke Ariyasu5, Ryuji Fukuzawa2, and Tomonobu Hasegawa1 1 Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan 2 Department of Pathology and Laboratory Medicine, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan 3 Department of Medical Genetics, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan 4 Departme...
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Permanent Neonatal Diabetes Mellitus (PNDM) is a rare disorder where patient presents with diabetes within the first few months of life without autoantibodies associated with type 1 diabetes. The majority of PNDM cases have INS, ABCC8 or KCNJ11 mutations. We present a PNDM case with INS mutation. The proband is a second child of three siblings without family history of diabetes. She was born at...
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ژورنال
عنوان ژورنال: Clinical Pediatric Endocrinology
سال: 2016
ISSN: 0918-5739,1347-7358
DOI: 10.1297/cpe.25.139