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Proteus syndrome caused by novel somatic AKT1 duplication.
AlAnzi T, Al-Mashharawi E, Alhashem A. AlAnzi T, et al. Among authors: al mashharawi e. Saudi Med J. 2021 Jan;42(1):95-99. doi: 10.15537/smj.2021.1.25618. Saudi Med J. 2021. PMID: 33399177 Free PMC article.
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
Ramzan K, Al-Owain M, Al-Numair NS, Afzal S, Al-Ageel S, Al-Amer S, Al-Baik L, Al-Otaibi GF, Hashem A, Al-Mashharawi E, Basit S, Al-Mazroea AH, Softah A, Sogaty S, Imtiaz F. Ramzan K, et al. Among authors: al mashharawi e. Am J Med Genet B Neuropsychiatr Genet. 2020 Apr;183(3):172-180. doi: 10.1002/ajmg.b.32774. Epub 2019 Dec 19. Am J Med Genet B Neuropsychiatr Genet. 2020. PMID: 31854501