Optikusatrophie, Typ-I-Diabetes mellitus und Schallempfindungsstörung. Ein familiäres Syndrom

Bujara, K.; Burck, Uta; Dreyer, Michael; Koepp, P; Herberhold, Cornelia

doi:10.1055/s-2008-1055147

Search citation statements

Order By: Relevance

Paper Sections

Select...

First Family1

Citation Types

Supporting

Mentioning

Contrasting

Year Published

1984

1997

Publication Types

Select...

Book3

Article2

Relationship

Self Cite0

Independent5

Authors

Journals

Cited by 5 publications

(1 citation statement)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In two monoovular twins described in the literature, WS had identical clinical and chronologic features. 12 Note that the patients included in our study originate from Sardinia, where the population has been ethnically isolated for many centuries. Some aspects of WS suggest the presence of a single genetic defect responsible for the different alterations, e.g., the fact that the single symptoms never appear isolated in siblings or relatives of affected patients.…”

Section: First Familymentioning

confidence: 99%

Wolfram's Syndrome: A Clinical, Diagnostic, and Interpretative Contribution

et al. 1986

View full text Add to dashboard Cite

Four cases (belonging to two different families) of Wolfram's syndrome (WS), a rare congenital disease characterized in its complete form by insulin-dependent diabetes mellitus, optic atrophy, diabetes insipidus, deafness, and dilation of the urinary tracts are presented, and a review of the literature is included. Three of four patients are characterized by HLA-DR2 haplotype, which is rare in IDDM. The neurodegenerative nature of some symptoms and the possible pathogenesis of diabetes mellitus connected with it are discussed.

show abstract

Section: First Familymentioning

confidence: 99%