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PedAM

Pediatric Disease Annotations & Medicines




Disease dwarfism
Phenotype C0011847|diabetes
Sentences 2
PubMedID- 21921983 Merimee found that growth hormone-deficient dwarfs with diabetes exhibited no microvascular complications [18], and later showed that serum igf-i levels in adult diabetic patients with rapidly progressive retinopathy were twice those of patients without retinopathy, of patients with less severe retinopathy, and of nondiabetic control patients [7].
PubMedID- 26159176 Here, we report the first homozygous mutation in the ppp1r15b gene (also known as constitutive repressor of eif2alpha phosphorylation [crep]) encoding the regulatory subunit of an eif2alpha-specific phosphatase in two siblings affected by a novel syndrome of diabetes of youth with short stature, intellectual disability, and microcephaly.

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