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Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review.
Kohil A, Abdallah AM, Hussain K, Al-Shafai M. Kohil A, et al. Orphanet J Rare Dis. 2023 Jan 31;18(1):22. doi: 10.1186/s13023-023-02614-8. Orphanet J Rare Dis. 2023. PMID: 36721231 Free PMC article. Review.
BACKGROUND: Woodhouse-Sakati syndrome (WSS) is a rare, autosomal recessive genetic disorder with variable clinical manifestations mainly affecting the endocrine and nervous systems. ...
BACKGROUND: Woodhouse-Sakati syndrome (WSS) is a rare, autosomal recessive genetic disorder with variable clinical mani …
Brain MR Imaging Findings in Woodhouse-Sakati Syndrome.
Abusrair AH, Bohlega S, Al-Semari A, Al-Ajlan FS, Al-Ahmadi K, Mohamed B, AlDakheel A. Abusrair AH, et al. AJNR Am J Neuroradiol. 2018 Dec;39(12):2256-2262. doi: 10.3174/ajnr.A5879. Epub 2018 Nov 8. AJNR Am J Neuroradiol. 2018. PMID: 30409855 Free PMC article.
BACKGROUND AND PURPOSE: Woodhouse-Sakati syndrome is a rare autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, and progressive extrapyramidal signs. ...The purpose of this study was to describe the spectrum of brain MR im …
BACKGROUND AND PURPOSE: Woodhouse-Sakati syndrome is a rare autosomal recessive disorder characterized by hypogonadism, …
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, Al-Dewik N, Mohammed S, Elfituri M, Agouba S, Musa S, Mahmoud L, Almulla M, El-Akouri K, Mohd H, Bux R, Almulla H, Othman A, Al-Mesaifri F, Shahbeck N, Al-Muriekhi M, Khalifa A, Al-Sulaiman R, Ben-Omran T. Ali R, et al. Am J Med Genet A. 2022 Jan;188(1):116-129. doi: 10.1002/ajmg.a.62501. Epub 2021 Sep 30. Am J Med Genet A. 2022. PMID: 34590781 Review.
Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine and ectodermal disorder caused by variants in the DCAF17 gene. ...
Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine and ectodermal disorder caused by variants …
Patterns of neurological manifestations in Woodhouse-Sakati Syndrome.
Bohlega S, Abusrair AH, Al-Ajlan FS, Alharbi N, Al-Semari A, Bohlega B, Abualsaud D, Alkuraya F. Bohlega S, et al. Parkinsonism Relat Disord. 2019 Dec;69:99-103. doi: 10.1016/j.parkreldis.2019.10.007. Epub 2019 Oct 13. Parkinsonism Relat Disord. 2019. PMID: 31726291
BACKGROUND: Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disease with characteristic neuro-endocrine manifestations. ...
BACKGROUND: Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disease with characteristic neuro-endocrine m …
A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature.
Kurnaz E, Türkyılmaz A, Yaralı O, Demir B, Çayır A. Kurnaz E, et al. J Pediatr Endocrinol Metab. 2019 Nov 26;32(11):1287-1293. doi: 10.1515/jpem-2019-0173. J Pediatr Endocrinol Metab. 2019. PMID: 31472064 Review.
Background Woodhouse-Sakati syndrome (WSS) (OMIM#241080) is an extremely rare multisystemic disease. ...
Background Woodhouse-Sakati syndrome (WSS) (OMIM#241080) is an extremely rare multisystemic disease. ...
Woodhouse-Sakati Syndrome: First report of a Portuguese case.
Louro P, Durães J, Oliveira D, Paiva S, Ramos L, Macário MC. Louro P, et al. Am J Med Genet A. 2019 Nov;179(11):2237-2240. doi: 10.1002/ajmg.a.61303. Epub 2019 Jul 26. Am J Med Genet A. 2019. PMID: 31347785
Woodhouse-Sakati Syndrome is a very rare autosomal recessive disorder caused by pathogenic variants in the DCAF17 gene, which encodes DDB1- and CUL4-associated factor 17. ...Serial brain magnetic resonance imaging showed a progressive periventricular leukodys …
Woodhouse-Sakati Syndrome is a very rare autosomal recessive disorder caused by pathogenic variants in the DCAF17 gene, …
Woodhouse-Sakati syndrome (WSS): A case report of 3 Saudi sisters with urogenital anomalies.
Alharbi MS. Alharbi MS. Saudi Med J. 2021 Nov;42(11):1237-1242. doi: 10.15537/smj.2021.42.11.20210329. Saudi Med J. 2021. PMID: 34732557 Free PMC article.
Woodhouse-Sakati syndrome (WSS) is a rare genetic condition of autosomal recessive inheritance pattern. ...
Woodhouse-Sakati syndrome (WSS) is a rare genetic condition of autosomal recessive inheritance pattern. ...
Woodhouse-Sakati syndrome in an Israeli-Arab family presenting with youth-onset diabetes mellitus and delayed puberty.
Rachmiel M, Bistritzer T, Hershkoviz E, Khahil A, Epstein O, Parvari R. Rachmiel M, et al. Horm Res Paediatr. 2011;75(5):362-6. doi: 10.1159/000323441. Epub 2011 Feb 8. Horm Res Paediatr. 2011. PMID: 21304230
BACKGROUND AND OBJECTIVE: Woodhouse-Sakati syndrome (WSS) is a rare autosomal-recessive disorder characterized by a combination of hypogonadism, alopecia, diabetes mellitus (DM), mental retardation and extrapyramidal signs, not described previously in Israel. …
BACKGROUND AND OBJECTIVE: Woodhouse-Sakati syndrome (WSS) is a rare autosomal-recessive disorder characterized by a com …
Woodhouse-Sakati syndrome in an Indian patient with a novel pathogenic variant.
Amalnath SD, Jothivanan, Oshima J, Buchan JG, Paolucci S. Amalnath SD, et al. Am J Med Genet A. 2024 Jan;194(1):100-102. doi: 10.1002/ajmg.a.63405. Epub 2023 Sep 14. Am J Med Genet A. 2024. PMID: 37706616 Free PMC article.
Woodhouse-Sakati syndrome consists of hypogonadism, diabetes mellitus, alopecia, ECG abnormalities, and dystonia. ...
Woodhouse-Sakati syndrome consists of hypogonadism, diabetes mellitus, alopecia, ECG abnormalities, and dystonia. ...
Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene.
Ben-Omran T, Ali R, Almureikhi M, Alameer S, Al-Saffar M, Walsh CA, Felie JM, Teebi A. Ben-Omran T, et al. Am J Med Genet A. 2011 Nov;155A(11):2647-53. doi: 10.1002/ajmg.a.34219. Epub 2011 Sep 30. Am J Med Genet A. 2011. PMID: 21964978 Free PMC article.
Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome [also known as Woodhouse-Sakati syndrome (WSS)] is a rare autosomal recessive neuroendocrine and ectodermal disorder. ...
Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome [also known as Woodhouse-Sakati …
15 results