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, Ekaterina A. Deordieva, Oksana A. Shvets, Anna A. Mukhina, Anna A. Moiseeva, Yulya A. Rodina, Petr V. Shumilov, Anna V. Pavlova, Elena V. Raikina, Aliy Yu. Asanov, Maria M. Litvinova, Anna Y. Shcherbina
格式: Artigo
語言:Inglês
出版: "Paediatrician" Publishers LLC 2020-01-01
叢編:Voprosy Sovremennoj Pediatrii
主題:
children
shwachman-diamond syndrome
sbds gene
symptoms
laboratory signs
steatorrhea
cytolysis syndrome
stool elastase i
在線閱讀:https://vsp.spr-journal.ru/jour/article/view/2239
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