Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3

Author:

Acar Sezer,BinEssa Huda A.,Demir Korcan,Al-Rijjal Roua A.,Zou Minjing,Çatli Gönül,Anık Ahmet,Al-Enezi Anwar F.,Özışık Seçil,Al-Faham Manar S. A.,Abacı Ayhan,Dündar Bumin,Kattan Walaa E.,Alsagob Maysoon,Kavukçu Salih,Tamimi Hamdi E.,Meyer Brian F.,Böber Ece,Shi YufeiORCID

Funder

King Abdulaziz City for Science and Technology

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference45 articles.

1. Incidence and prevalence of nutritional and hereditary rickets in southern Denmark;SS Beck-Nielsen;Eur J Endocrinol,2009

2. Clinical and molecular heterogeneity in a large series of patients with hypophosphatemic rickets;S Capelli;Bone,2015

3. Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets;NN Razali;J Pediatr Endocrinol Metab,2015

4. Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation;M Bastepe;Rev Endocr Metab Disord,2008

5. Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets;SS Beck-Nielsen;J Hum Genet,2012

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