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Woodhouse-Sakati Syndrome.
Bohlega SA, Abusrair A. Bohlega SA, et al. 2016 Aug 4 [updated 2021 Jul 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2016 Aug 4 [updated 2021 Jul 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 27489925 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Virtually all individuals with Woodhouse-Sakati syndrome (WSS) have the endocrine findings of hypogonadism (evident at puberty) and progressive childhood-onset hair thinning that often progresses to alopecia totalis in adulthood. ... …
CLINICAL CHARACTERISTICS: Virtually all individuals with Woodhouse-Sakati syndrome (WSS) have the endocrine findings of …
Woodhouse-Sakati syndrome: A review.
Messina C. Messina C. Rev Neurol (Paris). 2024 Feb 5:S0035-3787(24)00023-7. doi: 10.1016/j.neurol.2023.11.008. Online ahead of print. Rev Neurol (Paris). 2024. PMID: 38320940 Review.
Neurodegeneration with brain iron accumulation (NBIA) is a rare and inherited spectrum of movement disorders caused by mutations affecting the function of proteins that participate in the homeostasis of tissue metals such as iron or copper and other metabolic pathways, although t …
Neurodegeneration with brain iron accumulation (NBIA) is a rare and inherited spectrum of movement disorders caused by mutations affecting t …
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. ...This study is the largest to date on Qatari patients with WSS and highlights the high incidence and clinical …
Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine and ectodermal disorder caused by variants …
Multimodal Evoked Potential Profiles in Woodhouse-Sakati Syndrome.
Abusrair A, AlHamoud I, Bohlega S. Abusrair A, et al. J Clin Neurophysiol. 2022 Sep 1;39(6):504-509. doi: 10.1097/WNP.0000000000000811. Epub 2020 Dec 30. J Clin Neurophysiol. 2022. PMID: 33417382
PURPOSE: Woodhouse-Sakati syndrome is a rare autosomal recessive syndrome caused by homozygous mutations in the DCAF17 gene, characterized by marked neurologic and endocrine manifestations in the setting of brain iron accumulation and white matter lesi …
PURPOSE: Woodhouse-Sakati syndrome is a rare autosomal recessive syndrome caused by homozygous mutations in the DCAF …
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. ...Conclusions We report a novel mutation detected in the DCAF17 gene and discuss the clinical findings in patients with previously reported mutations. …
Background Woodhouse-Sakati syndrome (WSS) (OMIM#241080) is an extremely rare multisystemic disease. ...Conclusions We …
Woodhouse-Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF17 gene.
Shah K, Jan A, Ahmad F, Basit S, Ramzan K, Ahmad W. Shah K, et al. Clin Exp Dermatol. 2020 Mar;45(2):159-164. doi: 10.1111/ced.14046. Epub 2019 Aug 28. Clin Exp Dermatol. 2020. PMID: 31323129
BACKGROUND: Woodhouse-Sakati syndrome (WSS) is a rare neuroendocrine and ectodermal disorder inherited in an autosomal recessive pattern. ...RESULTS: Analysis of the exome data revealed a start loss sequence variant (c.1A>G, p.M1?) in DCAF17. CONCLU …
BACKGROUND: Woodhouse-Sakati syndrome (WSS) is a rare neuroendocrine and ectodermal disorder inherited in an autosomal …
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. ...Additional studies are now needed to understand the genotype-phenotype cor …
BACKGROUND: Woodhouse-Sakati syndrome (WSS) is a rare, autosomal recessive genetic disorder with variable clinical mani …
Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family.
Fozia F, Shah K, Nazli R, Khan SA, Ahmad I, Mohammad N, Khan S, Alotaibi A. Fozia F, et al. J Clin Lab Anal. 2022 Jan;36(1):e24127. doi: 10.1002/jcla.24127. Epub 2021 Dec 8. J Clin Lab Anal. 2022. PMID: 34877714 Free PMC article.
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 a …
BACKGROUND: Woodhouse-Sakati syndrome is a rare autosomal recessive disease with endocrine and neuroectodermal aberrati …
Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene.
Zhou M, Shi N, Zheng J, Chen Y, Wang S, Xiao K, Cui Z, Qiu K, Zhu F, Li H. Zhou M, et al. Front Endocrinol (Lausanne). 2021 Dec 23;12:770871. doi: 10.3389/fendo.2021.770871. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 35002959 Free PMC article.
Woodhouse-Sakati syndrome (WSS) (OMIM#241080) is a rare multi-system autosomal recessive disease with homozygous mutation of the DCAF17 gene. The main features of WSS include diabetes, hypogonadism, alopecia, deafness, intellectual disability and progr …
Woodhouse-Sakati syndrome (WSS) (OMIM#241080) is a rare multi-system autosomal recessive disease with homozygous mutati …
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 disease is caused by biallelic pathogenic variants in the DCAF17 …
BACKGROUND AND PURPOSE: Woodhouse-Sakati syndrome is a rare autosomal recessive disorder characterized by hypogonadism, …
36 results