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Article

Identification of two novel homozygous mutations in ERCC8 gene in two unrelated consanguineous families with Cockayne syndrome from Iran.

Clinica chimica acta; international journal of clinical chemistry - 1 Dec 2021

Yousefipour Farideh, Mahjoobi Forouzandeh

Abstract excerpt

BACKGROUND: Cockayne syndrome (CS) is a rare autosomal recessive disorder with characteristic multisystem involvement including pre- or post-natal growth failure, progressive neurological dysfunction, psychomotor retardation, cerebral atrophy, microcephaly and mental retardation, due to mutations in either the ERCC8/CSA or ERCC6/CSB gene. METHOD: We present two Iranian patients with remarkable growth failure,...

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PMID: 34461059
DOI: 10.1016/j.cca.2021.08.015

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