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Case ReportCase Report
Open Access

Woodhouse-Sakati syndrome (WSS)

A case report of 3 Saudi sisters with urogenital anomalies

Mariam S. Alharbi
Saudi Medical Journal November 2021, 42 (11) 1237-1242; DOI: https://doi.org/10.15537/smj.2021.42.11.20210329
Mariam S. Alharbi
From the Department of Internal medicine, college of Medicine, Qassim University, Buyrydah, Kingdom of Saudi Arabia.
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References

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    Woodhouse-Sakati syndrome: report of the First Tunisian family with the C2orf37 gene mutation. J Mov Disord 2016; 9: 120–123.
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    Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. Am J Hum Genet 2008; 83: 684–691.
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    Woodhouse-Sakati syndrome with psychosis and basal ganglia calcification: a case report. J Med Cases 2018; 9: 73–75.
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    Woodhouse-Sakati syndrome: first report of a Portuguese case. Am J Med Genet A 2019; 179: 2237–2240.
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    1. Agopiantz M,
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  6. 6.↵
    1. Bohlega SA,
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    Woodhouse-Sakati syndrome. Seattle: University of Washington; [Updated 2016; December 2020]. Available from: https://europepmc.org/article/nbk/nbk378974
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    Woodhouse Sakati syndrome associated with bilateral keratoconus. Br J Ophthalmol 2006; 90: 116–117.
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    Brain MR imaging findings in Woodhouse-Sakati syndrome. AJNR Am J Neuroradiol 2018; 39: 2256–2262.
    OpenUrlAbstract/FREE Full Text
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Saudi Medical Journal: 42 (11)
Saudi Medical Journal
Vol. 42, Issue 11
1 Nov 2021
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Woodhouse-Sakati syndrome (WSS)
Mariam S. Alharbi
Saudi Medical Journal Nov 2021, 42 (11) 1237-1242; DOI: 10.15537/smj.2021.42.11.20210329

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Woodhouse-Sakati syndrome (WSS)
Mariam S. Alharbi
Saudi Medical Journal Nov 2021, 42 (11) 1237-1242; DOI: 10.15537/smj.2021.42.11.20210329
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Keywords

  • Woodhouse-Sakati syndrome
  • urogenital anomalies

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© 2025 Saudi Medical Journal Saudi Medical Journal is copyright under the Berne Convention and the International Copyright Convention.  Saudi Medical Journal is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work. Electronic ISSN 1658-3175. Print ISSN 0379-5284.

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