A new entity in the NARS2 variant: the first reported case of type 1 diabetes mellitus associated with the phenotype

Abstract NARS2 mutations are known to cause various clinical phenotypes such as nonsyndromic hearing loss, Leigh/Alpers syndrome, refractory epilepsy, developmental delay, intellectual disability and myopathy. We presented the first Turkish variant of NASR2 and added type 1 diabetes mellitus (DM), w...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Journal of tropical pediatrics (1980) 2022-12, Vol.69 (1)
Hauptverfasser:	Cokyaman, Turgay, Cetin, Huriye, Dogan, Durmus, Silan, Fatma
Format:	Artikel
Sprache:	eng
Schlagworte:	Aspartate-tRNA Ligase - genetics Diabetes Mellitus, Type 1 - complications Diabetes Mellitus, Type 1 - diagnosis Diabetes Mellitus, Type 1 - genetics Female Humans Infant Intellectual Disability - diagnosis Intellectual Disability - genetics Leigh Disease Mutation Mutation, Missense Phenotype
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!