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Article

Diagnosis of cystathionine beta-synthase deficiency by genetic analysis.

Journal of the neurological sciences - 15 Dec 2014

Suri Fatemeh, Narooie-Nejad Mehrnaz, Safari Iman, Moazzeni Hamidreza, Rohani Mohammad-Reza, Khajeh Ali, Klotzle Brandy, Fan Jian-Bing, Elahi Elahe

Abstract excerpt

Intellectual disability like other common diseases is often complex because they are genetically heterogeneous, with many different genetic defects giving rise to clinically indistinguishable phenotypes. We present diagnosis of cystathionine beta-synthase (CBS) deficiency in a multiply affected Iranian family with obvious intellectual disability based on whole genome SNP homozygosity mapping. Diagnosis based on...

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Identifiers

PMID: 25455305
DOI: 10.1016/j.jns.2014.10.031

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CBS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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