Dominant SUR1 mutation causing autosomal dominant type 2 diabetes

The Lancet ◽  
2003 ◽  
Vol 361 (9354) ◽  
pp. 272-273 ◽  
Author(s):  
Benjamin Glaser
Diabetologia ◽  
2007 ◽  
Vol 50 (10) ◽  
pp. 2224-2226 ◽  
Author(s):  
M. Borowiec ◽  
R. Thompson ◽  
C. Powers ◽  
R. Xu ◽  
T. Dickey ◽  
...  

2009 ◽  
Vol 3 (4) ◽  
pp. 233-238 ◽  
Author(s):  
Viswanathan Mohan ◽  
Patwari Prakash Pranjali ◽  
Anandakumar Amutha ◽  
Anbazhagan Ganesan ◽  
Manjula Datta ◽  
...  

Author(s):  
Alexander K. C. Leung ◽  
William Lane M. Robson ◽  
Carsten Büning ◽  
Johann Ockenga ◽  
Janine Büttner ◽  
...  

2018 ◽  
pp. 351-378
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  

This chapter discusses punctate calcification group and related disorders and includes discussion on Greenberg dysplasia, chondrodysplasia punctata Conradi-Hünermann type, CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) syndrome, chondrodysplasia punctata (rhizomelic type), chondrodysplasia punctata (brachytelephalangic type), chondrodysplasia punctata (autosomal dominant type), chondrodysplasia punctata (tibia-metacarpal type), and Keutel syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.


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