Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis

OBJECTIVE: Bi-allelic mutations in the wolframin gene (WFS1) cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized by non-autoimmune diabetes mellitus, optic atrophy, diabetes insipidus, sensorineural deafness, urinary tract abnormalities, and neuropsychiatric disorders. Patients presenting with a...

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Detalles Bibliográficos
Autores principales: Sherif, Maha, Demirbilek, Hüseyin, Çayır, Atilla, Tahir, Sophia, Çavdarlı, Büşra, Demiral, Meliha, Cebeci, Ayşe Nurcan, Vurallı, Doğuş, Rahman, Sofia Asim, Unal, Edip, Büyükyılmaz, Gönül, Baran, Riza Taner, Özbek, Mehmet Nuri, Hussain, Khalid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7947724/
https://www.ncbi.nlm.nih.gov/pubmed/32938580
http://dx.doi.org/10.4274/jcrpe.galenos.2020.2020.0152

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7947724/
https://www.ncbi.nlm.nih.gov/pubmed/32938580
http://dx.doi.org/10.4274/jcrpe.galenos.2020.2020.0152

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