Article
A More Precise Description of the AKT2-Related Hypoinsulinemic Hypoglycemia and Overgrowth Syndrome Phenotype, Formerly Described Under the MORFAN Acronym.
American journal of medical genetics. Part A - 1 Aug 2026
Turnovec Marek, Bubeníková Adéla, Rýdlo Ondřej, Skalický Petr, Zápotocký Michal, Haratek Kryštof, Kočandrlová Karolina, Macek Milan, Beneš Vladimír, Bradáč Ondřej, Havlovicová Markéta
Abstract excerpt
The AKT2-related hypoinsulinemic hypoglycemia and overgrowth syndrome was initially described over 30 years ago as MORFAN syndrome which was an acronym for Mental retardation, pre- and post-natal Overgrowth, Remarkable Face, and Acanthosis Nigricans. Despite the limited possibility of confirming a diagnosis on the molecular level at that time, a comprehensive 30-year follow-up of a patient facilitated a detailed...
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