Associated Papers
Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review.
Kohil A et al.
Orphanet Journal of Rare Diseases, 2023
Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in DCAF17 gene underlying Woodhouse-Sakati syndrome.
Kumari R et al.
Journal of Neuroendocrinology, 2022
Expanding on the phenotypic spectrum of Woodhouse-Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review.
Ali R et al.
American Journal of Medical Genetics. Part A, 2022
Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family.
Chen G et al.
Frontiers in Genetics, 2021
Woodhouse-Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF17 gene.
Shah K et al.
Clinical and Experimental Dermatology, 2020
A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature.
Kurnaz E et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.
Ali RH et al.
Clinical Genetics, 2016
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