Literature DB >> 2231654

Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction.

S J Charles1, A T Moore, J R Yates, T Green, P Clark.   

Abstract

We report a case of Alstrom's syndrome with hypothyroidism in addition to the cardinal features of blindness, deafness, obesity, and insulin dependent diabetes mellitus. The parents were first cousins once removed which strengthens the case for autosomal recessive inheritance.

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Mesh：

Year:  1990        PMID： 2231654      PMCID： PMC1017224          DOI： 10.1136/jmg.27.9.590

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  7 in total

1.  Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree.

Authors:  C H ALSTROM; B HALLGREN; L B NILSSON; H ASANDER
Journal:  Acta Psychiatr Neurol Scand Suppl       Date:  1959

2.  Molecular defects in insulin action.

Authors:  C R Kahn; B J Goldstein
Journal:  Science       Date:  1989-07-07       Impact factor: 47.728

3.  Impaired insulin-induced RNA synthesis secondary to a genetically defective insulin receptor.

Authors:  H W Rüdiger; P Ahrens; M Dreyer; B Frorath; C Löffel; U Schmidt-Preuss
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

4.  The Alström syndrome. Report of three cases with further delineation of the clinical, pathophysiological, and genetic aspects of the disorder.

Authors:  J L Goldstein; P J Fialkow
Journal:  Medicine (Baltimore)       Date:  1973-01       Impact factor: 1.889

5.  The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies.

Authors:  D Klein; F Ammann
Journal:  J Neurol Sci       Date:  1969 Nov-Dec       Impact factor: 3.181

6.  The syndromes of insulin resistance and acanthosis nigricans. Insulin-receptor disorders in man.

Authors:  C R Kahn; J S Flier; R S Bar; J A Archer; P Gorden; M M Martin; J Roth
Journal:  N Engl J Med       Date:  1976-04-01       Impact factor: 91.245

7.  Ophthalmologic and systemic manifestations of Alström's disease.

Authors:  R H Millay; R G Weleber; J R Heckenlively
Journal:  Am J Ophthalmol       Date:  1986-10-15       Impact factor: 5.258
  7 in total
  2 in total

Review 1.  Syndromes of hearing loss associated with visual loss.

Authors:  Kamal Ahmed Abou-Elhamd; Hesham Mohamed ElToukhy; Fahad Abdullah Al-Wadaani
Journal:  Eur Arch Otorhinolaryngol       Date:  2013-04-30       Impact factor: 2.503

2.  Alström syndrome: genetics and clinical overview.

Authors:  Jan D Marshall; Pietro Maffei; Gayle B Collin; Jürgen K Naggert
Journal:  Curr Genomics       Date:  2011-05       Impact factor: 2.236
  2 in total

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