Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLS.
Zaki MS, Sharaf-Eldin WE, Rafat K, Elbendary HM, Kamel M, Elkhateeb N, Noureldeen MM, Abdeltawab MA, Sadek AA, Essawi ML, Lau T, Murphy D, Abdel-Hamid MS, Holuden H, Issa MY, Gleeson JG.
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Clin Genet. 2023 Aug;104(2):238-244. doi: 10.1111/cge.14338. Epub 2023 Apr 13.
Clin Genet. 2023.
PMID: 37055917