Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1A

Objective:Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in the 1α-hydroxylase gene (CYB27B1). As it may be confused with nutritional rickets and hypophosphatemic rickets, genetic analysis is important for making a correct diagnosis.Methods:We ana...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид: Fatma Dursun, Gamze Özgürhan, Heves Kırmızıbekmez, Ece Keskin, Bülent Hacıhamdioğlu
Формат: Өгүүллэг
Хэл сонгох:English
Хэвлэсэн: Galenos Yayincilik 2019-03-01
Цуврал:JCRPE
Нөхцлүүд:
Онлайн хандалт: http://www.jcrpe.org/archives/archive-detail/article-preview/genetic-and-clinical-characteristics-of-patients-w/19707