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...

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Detalles Bibliográficos
Autores principales: Dursun, Fatma, Özgürhan, Gamze, Kırmızıbekmez, Heves, Keskin, Ece, Hacıhamdioğlu, Bülent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398191/
https://www.ncbi.nlm.nih.gov/pubmed/30282619
http://dx.doi.org/10.4274/jcrpe.galenos.2018.2018.0121

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398191/
https://www.ncbi.nlm.nih.gov/pubmed/30282619
http://dx.doi.org/10.4274/jcrpe.galenos.2018.2018.0121

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