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Case ReportCase Report
Open Access

Proteus syndrome caused by novel somatic AKT1 duplication

Talal AlAnzi, Eman Al-mashharawi and Amal Alhashem
Saudi Medical Journal January 2021, 42 (1) 95-99; DOI: https://doi.org/10.15537/smj.2021.1.25618
Talal AlAnzi
From the Department of Pediatrics (AlAnzi, Alhashem), Division of Medical Genetic; from the Department of Otolaryngology (Al-mashharawi), Prince Sultan Military Medical City, Riyadh; and from the College of Medicine (Alhashem), Alfaisal University, Riyadh, Kingdom of Saudi Arabia
FMG
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  • For correspondence: [email protected]
Eman Al-mashharawi
From the Department of Pediatrics (AlAnzi, Alhashem), Division of Medical Genetic; from the Department of Otolaryngology (Al-mashharawi), Prince Sultan Military Medical City, Riyadh; and from the College of Medicine (Alhashem), Alfaisal University, Riyadh, Kingdom of Saudi Arabia
MD
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Amal Alhashem
From the Department of Pediatrics (AlAnzi, Alhashem), Division of Medical Genetic; from the Department of Otolaryngology (Al-mashharawi), Prince Sultan Military Medical City, Riyadh; and from the College of Medicine (Alhashem), Alfaisal University, Riyadh, Kingdom of Saudi Arabia
FM, FMG
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References

  1. ↵
    1. Popescu MD,
    2. Burnei G,
    3. Draghici L,
    4. Draghici I
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    (2015) Myocardial fat overgrowth in Proteus syndrome. Am J Med Genet A 167:103–110.
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    1. El-Sobky TA,
    2. Elsayed SM,
    3. El Mikkawy DM
    (2015) Orthopaedic manifestations of Proteus syndrome in a child with literature update. Bone Rep 3:104–108.
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    1. Cohen MM
    (2014) Proteus syndrome review:molecular clinical, and pathologic features. Clin Genet 85:111–119.
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    2. Sapp JC,
    3. Teer JK,
    4. Johnston JJ,
    5. Finn EM,
    6. Peters K,
    7. et al.
    (2011) A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med 365:611–619.
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  6. ↵
    1. Turner JT,
    2. Cohen MM,
    3. Biesecker LG
    (2004) Reassessment of the Proteus syndrome literature:application of diagnostic criteria to published cases. Am J Med Genet A 130:111–122.
    OpenUrl
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Saudi Medical Journal: 42 (1)
Saudi Medical Journal
Vol. 42, Issue 1
1 Jan 2021
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Proteus syndrome caused by novel somatic AKT1 duplication
Talal AlAnzi, Eman Al-mashharawi, Amal Alhashem
Saudi Medical Journal Jan 2021, 42 (1) 95-99; DOI: 10.15537/smj.2021.1.25618

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Proteus syndrome caused by novel somatic AKT1 duplication
Talal AlAnzi, Eman Al-mashharawi, Amal Alhashem
Saudi Medical Journal Jan 2021, 42 (1) 95-99; DOI: 10.15537/smj.2021.1.25618
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Keywords

  • AKT1
  • de novo
  • mosaicism
  • Proteus syndrome

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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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