Genetic and Clinical Features of Shwachman-Diamond Syndrome in Russian Population: Prospective Study

Genetic and Clinical Features of Shwachman-Diamond Syndrome in Russian Population: Prospective Study

Background. Shwachman-Diamond syndrome (SDS) is the rare genetic autosomal recessive disorder with pathogenic variants in SBDS gene. The spectrum of SBDS gene variants in patients with SDS and features of disease course have not been studied before in Russian population.Objective. The aim of the stu...

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Main Authors: Maria G. Ipatova (Author), Ekaterina A. Deordieva (Author), Oksana A. Shvets (Author), Anna A. Mukhina (Author), Anna A. Moiseeva (Author), Yulya A. Rodina (Author), Petr V. Shumilov (Author), Anna V. Pavlova (Author), Elena V. Raikina (Author), Aliy Yu. Asanov (Author), Maria M. Litvinova (Author), Anna Y. Shcherbina (Author)
Format: Book
Published: "Paediatrician" Publishers LLC, 2020-01-01T00:00:00Z.
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