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.
Goji, Katsumi
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. [electronic resource] - The Journal of clinical endocrinology and metabolism Feb 2006 - 365-70 p. digital
Publication Type: Case Reports; Journal Article
0021-972X
10.1210/jc.2005-1776 doi
Adult
Child, Preschool
Chromosomes, Human, X--genetics
DNA--genetics
Female
Fibroblast Growth Factor-23
Fibroblast Growth Factors--genetics
Germ-Line Mutation
Haplotypes
Humans
Hypophosphatemia, Familial--genetics
Male
Membrane Glycoproteins--genetics
Metalloendopeptidases--genetics
Mosaicism
PHEX Phosphate Regulating Neutral Endopeptidase
Pedigree
Point Mutation
Polymerase Chain Reaction
Sequence Analysis, DNA
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. [electronic resource] - The Journal of clinical endocrinology and metabolism Feb 2006 - 365-70 p. digital
Publication Type: Case Reports; Journal Article
0021-972X
10.1210/jc.2005-1776 doi
Adult
Child, Preschool
Chromosomes, Human, X--genetics
DNA--genetics
Female
Fibroblast Growth Factor-23
Fibroblast Growth Factors--genetics
Germ-Line Mutation
Haplotypes
Humans
Hypophosphatemia, Familial--genetics
Male
Membrane Glycoproteins--genetics
Metalloendopeptidases--genetics
Mosaicism
PHEX Phosphate Regulating Neutral Endopeptidase
Pedigree
Point Mutation
Polymerase Chain Reaction
Sequence Analysis, DNA