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Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects

PURPOSE: To study the genetic basis and clinical manifestations of Wolfram syndrome in a multi-affected family. METHODS: Complete clinical examinations including urological, ophthalmic, neurological, and endocrinologic assessment were performed for three affected family members. Genomic DNA was extr...

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Detalles Bibliográficos
Autores principales: Mirrahimi, Mehraban, Safi, Sare, Mohammadzadeh, Maryam, Doozandeh, Azadeh, Suri, Fatemeh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PUBLISHED BY KNOWLEDGE E 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8593543/
https://www.ncbi.nlm.nih.gov/pubmed/34840683
http://dx.doi.org/10.18502/jovr.v16i4.9750