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A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration.
Ain Ul Batool S, Almatrafi A, Fadhli F, Alluqmani M, Sadia, Ali G, Basit S. Ain Ul Batool S, et al. Among authors: fadhli f. Am J Med Genet A. 2022 Apr;188(4):1075-1082. doi: 10.1002/ajmg.a.62614. Epub 2021 Dec 17. Am J Med Genet A. 2022. PMID: 34918859
Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.
Al-Fadhli FM, Afqi M, Sairafi MH, Almuntashri M, Alharby E, Alharbi G, Abdud Samad F, Hashmi JA, Zaytuni D, Bahashwan AA, Choi JH, Peake RWA, Beutler B, Almontashiri NAM. Al-Fadhli FM, et al. Clin Genet. 2021 May;99(5):694-703. doi: 10.1111/cge.13930. Epub 2021 Feb 17. Clin Genet. 2021. PMID: 33495992
GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.
Patel N, Shamseldin HE, Sakati N, Khan AO, Softa A, Al-Fadhli FM, Hashem M, Abdulwahab FM, Alshidi T, Alomar R, Alobeid E, Wakil SM, Colak D, Alkuraya FS. Patel N, et al. Among authors: al fadhli fm. Am J Hum Genet. 2017 May 4;100(5):831-836. doi: 10.1016/j.ajhg.2017.04.008. Am J Hum Genet. 2017. PMID: 28475863 Free PMC article.
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