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
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
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
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
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
A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome.
Steindl K et al.
Clinical Genetics, 2010
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
Alazami AM et al.
American Journal of Human Genetics, 2008
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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