Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects
Abstract 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...
Main Authors: | Mehraban Mirrahimi, Sare Safi, Maryam Mohammadzadeh, Azadeh Doozandeh, Fatemeh Suri |
---|---|
Format: | Article |
Language: | English |
Published: |
Knowledge E
2021-10-01
|
Series: | Journal of Ophthalmic & Vision Research |
Subjects: | |
Online Access: | https://doi.org/10.18502/jovr.v16i4.9750 |
Similar Items
-
Clinical and genetic analysis of a pedigree with Wolfram syndrome
by: Zi-Jie Chen, et al.
Published: (2023-11-01) -
Wolfram syndrome type 1: a case series
by: Danyang Du, et al.
Published: (2023-11-01) -
Paediatric Wolfram syndrome Type 1: should gonadal dysfunction be part of the diagnostic criteria?
by: Giulio Frontino, et al.
Published: (2023-06-01) -
Clinical management and obstetric outcome in WFS1 Wolfram syndrome spectrum disorder: A case report and literature review
by: Kai Zhang, et al.
Published: (2023-05-01) -
Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report
by: Maryem Sahli, et al.
Published: (2023-09-01)