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Article

Whole exome sequencing identifies a novel variant causing cockayne syndrome type I in a consanguineous Pakistani family.

The International journal of neuroscience - 1 Jun 2024

Zulfiqar Shumaila, Moawia Abubakar, Waseem Syeda Seema, Ali Zafar, Ramzan Shafaq, Anjum Iram, Baig Shahid Mahmood, Tariq Muhammad

Abstract excerpt

BACKGROUND: Cockayne syndrome (CS) is a rare neurodegenerative disorder characterized by impaired neurological functions, cachectic dwarfism, microcephaly and photosensitivity. Complementation assays identify two groups of this disorder, CS type I (CSA) and CS type II (CSB), caused by mutations in ERCC8 and ERCC6, respectively. OBJECTIVES: This study aimed to investigate the genetic basis of a consanguineous...

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Identifiers

PMID: 35645363
DOI: 10.1080/00207454.2022.2082967

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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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