TY  - GEN
AU  - Chandran,M
AU  - Chng,C L
AU  - Zhao,Y
AU  - Bee,Y M
AU  - Phua,L Y
AU  - Clarke,B L
TI  - Novel PHEX gene mutation associated with X linked hypophosphatemic rickets
SN  - 1660-2137
PY  - 2011///0203
KW  - Adult
KW  - Codon, Nonsense
KW  - DNA Mutational Analysis
KW  - Exons
KW  - Familial Hypophosphatemic Rickets
KW  - diagnostic imaging
KW  - Female
KW  - Genetic Diseases, X-Linked
KW  - Genetic Predisposition to Disease
KW  - Heredity
KW  - Humans
KW  - India
KW  - ethnology
KW  - PHEX Phosphate Regulating Neutral Endopeptidase
KW  - genetics
KW  - Pedigree
KW  - Phenotype
KW  - Radiography
KW  - Singapore
KW  - Vitamin D Deficiency
KW  - complications
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1159/000319318
ER  -