ArticleThe Journal of international medical research2025
A pedigree with homocystinuria caused by a novel homozygous CBS gene mutation: A case report.
Article in The Journal of international medical research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Homocystinuria, an autosomal recessive metabolic disorder, is caused by cystathionine β-synthase deficiency and presents with diverse clinical manifestations, including ectopia lentis, osteoporosis, scoliosis, premature arteriosclerosis, thromboembolism, and intellectual disability. We present a case in which a pedigree was diagnosed with homocystinuria through comprehensive physical examinations, ophthalmologic evaluations, and genetic testing. Three patients carrying a
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