| Literature DB >> 26003998 |
Nisha Garg1, Guney Bademci1, Joseph Foster1, Zeynep Sıklar2, Merih Berberoglu2, Mustafa Tekin3.
Abstract
We report a child with hypoinsulinemic hypoglycemia and distinctive facies, with a diagnosis of the previously described MORFAN (Mental retardation, pre- and post-natal Overgrowth, Remarkable Face, and Acanthosis Nigricans) syndrome of unknown etiology. Whole-exome sequencing revealed a de novo AKT2 mutation. Although AKT2 has been implicated in four patients with hypoinsulinemic hypoglycemia, our report expands phenotypic spectrum to include MORFAN syndrome characteristics.Entities:
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Year: 2015 PMID： 26003998 DOI： 10.1016/j.jpeds.2015.04.069
Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406