Novel Compound Heterozygous Mutations in the Vitamin D Receptor Gene in a Korean Girl with Hereditary Vitamin D Resistant Rickets

Hereditary vitamin D resistant rickets (HVDRR) is a rare genetic disorder caused by a mutation of vitamin D receptor (VDR) gene. A number of cases had been reported in many countries but not in Korea. We examined a three-year old Korean girl who had the typical clinical features of HVDRR including r...

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Detalles Bibliográficos
Autores principales: Song, Jun Kyu, Yoon, Kyung Sik, Shim, Kye Shik, Bae, Chong-Woo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3154351/
https://www.ncbi.nlm.nih.gov/pubmed/21860566
http://dx.doi.org/10.3346/jkms.2011.26.8.1111

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3154351/
https://www.ncbi.nlm.nih.gov/pubmed/21860566
http://dx.doi.org/10.3346/jkms.2011.26.8.1111

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