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

Fatma Dursun Gamze Ozgurhan Heves Kirmizibekmez Ece Keskin Bülent Hacıhamdioğlu

Published in: Journal of clinical research in pediatric endocrinology (2018)

Intron-1 mutation was the most common mutation, as previously reported. All patients carrying that mutation were from same city of origin suggesting a “founder” or a “common ancestor” effect. VDDR1A should definitely be considered when a patient with signs of rickets has a normal 25-OHD level or when there is unresponsiveness to vitamin D treatment.

Keyphrases

end stage renal disease
newly diagnosed
ejection fraction
peritoneal dialysis
case report
copy number
dna methylation