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References in periodicals archive ?
This article presents clinical characteristics and mutation analysis results of 3 cases with Wolfram syndrome. Since Wolfram syndrome is a rare syndrome, the present article will expand the mutation database and help to understand the disease phenotype.
Professor Timothy Barrett is in the process of applying for NHS funding to establish a national multidisciplinary service for children and adults with Wolfram Syndrome at Birmingham Children's Hospital.
Wolfram syndrome is a neurodegenerative disease that is usually manifested by DM and OA in the first decade of life.
Wasson et al., "A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)," Nature Genetics, vol.
People with Wolfram Syndrome also have progressively declining levels of physical stamina.
Because scientists currently have no test for identifying carriers of the gene, Swift's team took an indirect approach, studying hospital records and self-reports from relatives of people with Wolfram syndrome. Within the next five years, they hope to develop enzyme probes to isolate the gene and identify its physiological functions.
We present here cases of two siblings of Wolfram syndrome and atrophic maculopathy.
Our patient was a boy whose clinical findings matched those reported for the Wolfram syndrome. At the age of 3 1/4 years, the patient was diagnosed to have diabetes mellitus along with severe psychomotor retardation, failure to thrive, a dysmorphic face with Peters anomaly (PS) type 3 (posterior central defect with stromal opacity of the cornea, adhering stripes of the iris, and cataract with corneolenticular adhesion), congenital glaucoma, megalocornea, hypothyreosis, nephrocalcinosis, severe hearing impairment, a one-sided deformity of the auricle with atresia of the bony and soft external auditory canal, a non-differentiable eardrum, and a missing os incus.
Scientists from the New York Stem Cell Foundation (NYSCF) Research Institute and Columbia University Medical Center (CUMC) produced induced pluripotent stem (iPS) cells from skin samples from individuals with Wolfram syndrome.
Partial deletions of the mitochondrial DNA (mtDNA) were first described in patients with mitochondrial disorders in 1988 (chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome) [1] and have later also been identified in neonates with Pearson bone marrow-pancreas syndrome [2], in Wolfram syndrome [3], combinations of diabetes and deafness [4], and others.