Facial Dysmorphic Features in a Patient With Nonketotic Hypoglycemia and a Pathogenic Variant in the AKT2 Gene

BACKGROUND/OBJECTIVE: AKT2 is a serine/threonine kinase that plays a key role in regulating insulin signaling. The phenotype related to the gain-of-function alteration in the AKT2 gene (c.49G>A, p.Glu17Lys) has been described in 5 patients with clinical findings that mimic hyperinsulinemic hypogl...

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Detalles Bibliográficos
Autores principales: Ochoa Molina, Maria Fernanda, Poggi, Helena, De Toro, Valeria, Mendoza, Carolina, Hussain, Khalid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association of Clinical Endocrinology 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9123592/
https://www.ncbi.nlm.nih.gov/pubmed/35602880
http://dx.doi.org/10.1016/j.aace.2021.11.006

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