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Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction
S J Charles1, A T Moore, J R Yates
1Department of Ophthalmology, Addenbrooke's Hospital, Cambridge.
Journal of Medical Genetics
|September 1, 1990
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.