Literature DB >> 437224

Werner's syndrome: seven cases in one family.

G Rabbiosi, G Borroni.   

Abstract

7 cases of Werner's syndrome in one family of northern Sardinia (the female : male ratio being 4:3) are reported. A 9-year-old girl affected with Cooley's anemia is reported too. The typical complete pattern of the syndrome was observed in patients in the fourth decade of their lives, whereas in the two youngest ones, some features were missing. 1 patient died of gastric carcinoma, 1 of cachexia. Consanguinity was established in two generations. The genealogical tree suggests an autosomal recessive mode of inheritance. Genealogical, clinical, biochemical, and histopathological studies were performed. As far as we know, this is the largest number of patients with Werner's syndrome reported in one family.

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Year:  1979        PMID: 437224     DOI: 10.1159/000250780

Source DB:  PubMed          Journal:  Dermatologica        ISSN: 0011-9075


  4 in total

Review 1.  Werner's syndrome: a review of recent research with an analysis of connective tissue metabolism, growth control of cultured cells, and chromosomal aberrations.

Authors:  D Salk
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

2.  Altered frequency of initiation sites of DNA replication in Werner's syndrome cells.

Authors:  F Takeuchi; F Hanaoka; M Goto; I Akaoka; T Hori; M Yamada; T Miyamoto
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

3.  High prevalence of Werner's syndrome in Sardinia. Description of six patients and estimate of the gene frequency.

Authors:  D Cerimele; F Cottoni; S Scappaticci; G Rabbiosi; G Borroni; E Sanna; G Zei; M Fraccaro
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

4.  Improvement of hyperinsulinemic diabetes following removal of a meningioma in Werner's syndrome. A case report.

Authors:  C Montecucco; G Attardo-Parrinello; G Brambilla; E L Chérié-Lignière; E Ascari
Journal:  Acta Diabetol Lat       Date:  1984 Apr-Jun
  4 in total

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