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Article

Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family.

Journal of clinical laboratory analysis - 1 Jan 2022

Fozia Fozia, Shah Khadim, Nazli Rubina, Khan Sher Alam, Ahmad Ijaz, Mohammad Noor, Khan Saadullah, Alotaibi Amal

Abstract excerpt

BACKGROUND: Woodhouse-Sakati syndrome is a rare autosomal recessive disease with endocrine and neuroectodermal aberrations with heterogeneous phenotypes and disease course. The most common phenotypes of the disease are progressive sensorineural hearing loss and alopecia, mild-to-moderate mental retardation and hypogonadism. The disease results from mutations in the DCAF17 gene. METHOD: Here, we reported a large...

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Identifiers

PMID: 34877714
DOI: 10.1002/jcla.24127
PMCID: PMC8761431

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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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