PMID: 18662362

Stoy J, Greeley SA, Paz VP, Ye H, Pastore AN, Skowron KB, Lipton RB, Cogen FR, Bell GI, Philipson LH
Diagnosis and treatment of neonatal diabetes: a United States experience.
Pediatr Diabetes. 2008 Oct;9(5):450-9. Epub 2008 Jul 25., [PubMed]
Sentences
No. Mutations Sentence Comment
63 ABCC8 p.Arg285Gln
X
ABCC8 p.Arg285Gln 18662362:63:139
status: NEW
view ABCC8 p.Arg285Gln details
 In a patient with Down`s syndrome, thyroid dysfunction, and diabetes diagnosed at 18 d of age, we identified a missense mutation in ABCC8, R285Q. Login to comment 198 ABCC8 p.Arg285Gln
X
ABCC8 p.Arg285Gln 18662362:198:204
status: NEW
view ABCC8 p.Arg285Gln details
 Three patients had other autoimmune diseases: celiac disease in one patient and thyroid dysfunction in two patients who also had Down`s syndrome (one of the patients was the carrier of the ABCC8 variant, R285Q). Login to comment