Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 2231654.
- Also identified by PMC identifier 1017224.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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.
Medical subject headings
- Abnormalities, Multiple
- Genes, Recessive
- Hypothyroidism