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Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family.

Brain & development - 1 Sept 2020

Hashmi Jamil A, Fadhli Fatima, Almatrafi Ahmed, Afzal Sibtain, Ramzan Khushnooda, Thiele Holger, Nürnberg Peter, Basit Sulman

Abstract excerpt

BACKGROUND: Cohen syndrome (CS) is a rare multi-system autosomal recessive disorder with a high prevalence in the Finnish population. Clinical features of Finnish-type CS are homogeneous, however, in non-Finnish populations, CS diagnosis is challenging due to broad phenotypic variability. METHODS: We studied a consanguineous family having three affected individuals with clinical features of severe intellectual...

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Identifiers

PMID: 32402540
DOI: 10.1016/j.braindev.2020.04.010

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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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