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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書誌詳細
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: "Paediatrician" Publishers LLC 2020-01-01
シリーズ:Voprosy Sovremennoj Pediatrii
主題:
children
shwachman-diamond syndrome
sbds gene
symptoms
laboratory signs
steatorrhea
cytolysis syndrome
stool elastase i
オンライン･アクセス:https://vsp.spr-journal.ru/jour/article/view/2239
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