| Literature DB >> 6876115 |
Abstract
A distinct and previously undescribed syndrome has been observed in six Saudi Arabian patients from two highly inbred families. The parents were normal, indicating an autosomal recessive pattern of inheritance. All the patients have a distinctive facial appearance, hypogonadism, sparse or absent hair, diabetes mellitus, mental retardation, mild deafness, and variable S-T and T wave abnormalities on the electrocardiograph.Entities:
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Year: 1983 PMID: 6876115 PMCID: PMC1049050 DOI: 10.1136/jmg.20.3.216
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318