Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction.
Open Access
- 1 September 1990
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 27 (9), 590-592
- https://doi.org/10.1136/jmg.27.9.590
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.Keywords
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