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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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: "Paediatrician" Publishers LLC 2020-01-01
Serie:Voprosy Sovremennoj Pediatrii
Soggetti:
children
shwachman-diamond syndrome
sbds gene
symptoms
laboratory signs
steatorrhea
cytolysis syndrome
stool elastase i
Accesso online:https://vsp.spr-journal.ru/jour/article/view/2239
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