Medan K. Isaeva on Muck Rack

Medan K. Isaeva

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Articles

Clinical and genetic characteristics of a large cohort of children with Alagille syndrome: identification of 57 new variants in the JAG1 gene - Journal of Human Genetics

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By Anna Degtyareva, Natalia Semenova, Elena Filippova, Ekaterina Shubina, Eleonora Annenkova, Ekaterina Konovalova, Elena Borisova, Andrey Marakhonov, Ekaterina Zakharova, Elena A. Gusarova, Alla E. Lavrova, Tatiana V. Strokova, Ekaterina Y. Nuzhnaya, Marina S. Gautier, Medan K. Isaeva, Victoria Y. Bezverbnaya, Yana D. Nazarenko
| Nature Verified
Abstract Alagille syndrome (ALGS) is an inherited multisystem disorder with a broad phenotypic spectrum and no apparent genotype-phenotype correlation. This study aimed to present the clinical and genetic characteristics of 115 patients diagnosed with ALGS in the Russian Federation between 2010 and 2023. The most common pathogenic variants identified in the study cohort were c.2122_2125delCAGT p.(Gln708Valfs*34) and c.439+1G>A.
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