Associated Papers
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
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
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
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The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome.
Sheridan MB et al.
Case Reports in Genetics, 2015
Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature.
Agopiantz M et al.
Journal of Endocrinological Investigation, 2014
C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.
Alazami AM et al.
Clinical Genetics, 2010
Alopecia and hypotrichosis as characteristic findings in Woodhouse-Sakati syndrome: report of a family with mutation in the C2orf37 gene.
Nanda A et al.
Pediatric Dermatology, 0
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