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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: "Paediatrician" Publishers LLC 2020-01-01
Saila:Voprosy Sovremennoj Pediatrii
Gaiak:
children
shwachman-diamond syndrome
sbds gene
symptoms
laboratory signs
steatorrhea
cytolysis syndrome
stool elastase i
Sarrera elektronikoa:https://vsp.spr-journal.ru/jour/article/view/2239
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak