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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Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: "Paediatrician" Publishers LLC 2020-01-01
Colección:Voprosy Sovremennoj Pediatrii
Materias:
children
shwachman-diamond syndrome
sbds gene
symptoms
laboratory signs
steatorrhea
cytolysis syndrome
stool elastase i
Acceso en línea:https://vsp.spr-journal.ru/jour/article/view/2239
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