A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report

Wolfram-like syndrome (WFSL) is a rare autosomal dominant disease characterised by congenital progressive hearing loss, diabetes mellitus, and optic atrophy. The patient was a boy with the juvenile form of diabetes mellitus and findings which clinically matched the symptoms of Wolfram syndrome. At t...

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Veröffentlicht in:	Journal of clinical research in pediatric endocrinology 2016-12, Vol.8 (4), p.482-483
Hauptverfasser:	Prochazkova, Dagmar, Hruba, Zuzana, Konecna, Petra, Skotakova, Jarmila, Fajkusova, Lenka
Format:	Artikel
Sprache:	eng
Schlagworte:	Case Report Case studies Child, Preschool Diagnosis DNA Mutational Analysis Gene mutations Genetic disorders Genetic Predisposition to Disease - genetics Humans Male Membrane Proteins - genetics Mutation, Missense Wolfram Syndrome - diagnosis Wolfram Syndrome - genetics
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