Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome?
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Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD)Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk.Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegiaAssociation of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. The Wolfram or DIDMOAD syndromeLinkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity.Balance impairment in individuals with Wolfram syndromeEarly presentation of gait impairment in Wolfram Syndrome.Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility.Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations.A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome.Clinical utility gene card for: Wolfram syndrome.Wolfram (DIDMOAD) syndrome.A case of wolfram syndrome.
P2860
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P2860
Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome?
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1977 nî lūn-bûn
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Diabetes mellitus, diabetes in ...... autosomal recessive syndrome?
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Diabetes mellitus, diabetes in ...... autosomal recessive syndrome?
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Diabetes mellitus, diabetes in ...... autosomal recessive syndrome?
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P2860
P1476
Diabetes mellitus, diabetes in ...... autosomal recessive syndrome?
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P2093
P2860
P304
P407
P577
1977-06-01T00:00:00Z