TY  - GEN
AU  - Goji,Katsumi
AU  - Ozaki,Kayo
AU  - Sadewa,Ahmad H
AU  - Nishio,Hisahide
AU  - Matsuo,Masafumi
TI  - Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait
SN  - 0021-972X
PY  - 2006///0314
KW  - Adult
KW  - Child, Preschool
KW  - Chromosomes, Human, X
KW  - genetics
KW  - DNA
KW  - Female
KW  - Fibroblast Growth Factor-23
KW  - Fibroblast Growth Factors
KW  - Germ-Line Mutation
KW  - Haplotypes
KW  - Humans
KW  - Hypophosphatemia, Familial
KW  - Male
KW  - Membrane Glycoproteins
KW  - Metalloendopeptidases
KW  - Mosaicism
KW  - PHEX Phosphate Regulating Neutral Endopeptidase
KW  - Pedigree
KW  - Point Mutation
KW  - Polymerase Chain Reaction
KW  - Sequence Analysis, DNA
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1210/jc.2005-1776
ER  -