Related references
Note: Only part of the references are listed.Novel mutations and the ophthalmologic characters in Chinese patients with Wolfram Syndrome
Youjia Zhang et al.
ORPHANET JOURNAL OF RARE DISEASES (2019)
Functional assessment of variants associated with Wolfram syndrome
Melissa Riachi et al.
HUMAN MOLECULAR GENETICS (2019)
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions
Cecile Rouzier et al.
HUMAN MOLECULAR GENETICS (2017)
A donor splice site mutation in CISD2 generates multiple truncated, nonfunctional isoforms in Wolfram syndrome type 2 patients
Monica Cattaneo et al.
BMC MEDICAL GENETICS (2017)
Retinal Thinning as a Marker of Disease Progression in Patients With Wolfram Syndrome
Agnieszka Zmyslowska et al.
DIABETES CARE (2015)
Survey on etiological diagnosis of diabetes in 1244 Italian diabetic children and adolescents: Impact of access to genetic testing
Enza Mozzillo et al.
DIABETES RESEARCH AND CLINICAL PRACTICE (2015)
Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings
Maurizio Rondinelli et al.
ACTA DIABETOLOGICA (2015)
A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2
Enza Mozzillo et al.
BMC MEDICAL GENETICS (2014)
A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2
Sami Amr et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q
H El-Shanti et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
Share Paper
