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]
Producer: 20060314Description: 365-70 p. digitalISSN:- 0021-972X
- 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
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Publication Type: Case Reports; Journal Article
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