A novel mutation in INS gene linked to permanent neonatal diabetes mellitus

Endocrine ◽  
2019 ◽  
Vol 64 (3) ◽  
pp. 719-723 ◽  
Author(s):  
Tao Wang ◽  
Sisi Ding ◽  
Sicheng Li ◽  
Heming Guo ◽  
Xiaohong Chen ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Novel Mutation ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Permanent Neonatal Diabetes ◽  
Permanent Neonatal Diabetes Mellitus

scholarly journals Rare form of Permanent Neonatal Diabetes Mellitus (PNDM) due to novel mutation in EIF2AK3 gene (Wolcott—Rallison syndrome)

2015 ◽  
Vol 61 (6) ◽  
pp. 31-35 ◽  
Author(s):  
Yulia Viktorovna Tikhonovich ◽  
Olga Vasil'evna Stotikova ◽  
Petr Mikhaylovich Rubtsov ◽  
Anatoly Nikolaevich Tiulpakov
Keyword(s):  
Diabetes Mellitus ◽  
North Africa ◽  
Autosomal Recessive ◽  
Hepatic Dysfunction ◽  
Novel Mutation ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Rare Form ◽  
Permanent Neonatal Diabetes ◽  
Permanent Neonatal Diabetes Mellitus

Wolcott—Rallison syndrome (WRS) is a rare genetic disease inherited in autosomal recessive way. Сlinical manifestations develop in early infancy with symptoms of permanent neonatal diabetes mellitus (PNDM), skeletal dysplasia, short stature and hepatic dysfunction. The condition has poor prognosis and most patients die at a young age due to episodes of acute liver or renal failure. To date about 60 genetically proved cases of WRS have been reported worldwide. The disease is most common in countries where consanguineous marriages are frequent, such as the Saudi Arabia (60% cases of PNDM patients), India, Turkey, Pakistan and North Africa. In Russian Federation WRS patients have not been described earlier.

A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus

2014 ◽  
Vol 104 (1) ◽  
pp. e29-e32 ◽  
Author(s):  
Wei-Lun Chang ◽  
Chun-Jui Huang ◽  
Tsun-Hsiang Lei ◽  
Dau-Ming Niu ◽  
Chih-Yang Chiu ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Novel Mutation ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Permanent Neonatal Diabetes ◽  
Permanent Neonatal Diabetes Mellitus ◽  
Kcnj11 Gene

Permanent neonatal diabetes mellitus: Epidemiology, mode of presentation, pathogenesis and growth

1999 ◽  
Vol 66 (3) ◽  
pp. 363-373 ◽  
Author(s):  
Ashraf T. Soliman ◽  
Mahmoud M. ElZalabany ◽  
Bhasker Bappal ◽  
Issa AlSalmi ◽  
Vasantha de Silva ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Permanent Neonatal Diabetes ◽  
Permanent Neonatal Diabetes Mellitus ◽  
Mode Of Presentation

scholarly journals 649 A Case of Permanent Neonatal Diabetes Mellitus

2012 ◽  
Vol 97 (Suppl 2) ◽  
pp. A188-A188
Author(s):  
Z. Karabouta ◽  
S. Ellard ◽  
S. Flanagan ◽  
D. Mackay ◽  
J. Hamilton-Shield ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Permanent Neonatal Diabetes ◽  
Permanent Neonatal Diabetes Mellitus
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