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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

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Several studies have shown a high rate of consanguinity and endogamy in North African populations. As a result, the frequency of autosomal recessive diseases is relatively high in the region… Click to show full abstract

Several studies have shown a high rate of consanguinity and endogamy in North African populations. As a result, the frequency of autosomal recessive diseases is relatively high in the region with the co‐occurrence of two or more diseases.

Keywords: fanconi anemia; diagnosis fanconi; anemia revealed; molecular diagnosis; cytogenetic molecular; revealed two

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2019

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