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Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal syndrome.
Ben Haj Ali A, Amouri A, Sayeb M, Makni S, Hammami W, Naouali C, Dallali H, Romdhane L, Bashamboo A, McElreavey K, Abdelhak S, Messaoud O. Ben Haj Ali A, et al. Mol Genet Genomic Med. 2019 Jul;7(7):e00694. doi: 10.1002/mgg3.694. Epub 2019 May 23. Mol Genet Genomic Med. 2019. PMID: 31124294 Free PMC article.
FANCA Gene Mutations in North African Fanconi Anemia Patients.
Ben Haj Ali A, Messaoud O, Elouej S, Talmoudi F, Ayed W, Mellouli F, Ouederni M, Hadiji S, De Sandre-Giovannoli A, Delague V, Lévy N, Bogliolo M, Surrallés J, Abdelhak S, Amouri A. Ben Haj Ali A, et al. Front Genet. 2021 Feb 19;12:610050. doi: 10.3389/fgene.2021.610050. eCollection 2021. Front Genet. 2021. PMID: 33679882 Free PMC article.