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Research Article
Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction.
  1. S J Charles,
  2. A T Moore,
  3. J R Yates,
  4. T Green,
  5. P Clark
  1. Department of Ophthalmology, Addenbrooke's Hospital, Cambridge.

    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.

    https://doi.org/10.1136/jmg.27.9.590

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