Goji, Katsumi <br/><br/>
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 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>0021-972X 
<br/><br/><label>Standard No.: </label>10.1210/jc.2005-1776  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Child, Preschool<br/>Chromosomes, Human, X--genetics<br/>DNA--genetics<br/>Female<br/>Fibroblast Growth Factor-23<br/>Fibroblast Growth Factors--genetics<br/>Germ-Line Mutation<br/>Haplotypes<br/>Humans<br/>Hypophosphatemia, Familial--genetics<br/>Male<br/>Membrane Glycoproteins--genetics<br/>Metalloendopeptidases--genetics<br/>Mosaicism<br/>PHEX Phosphate Regulating Neutral Endopeptidase<br/>Pedigree<br/>Point Mutation<br/>Polymerase Chain Reaction<br/>Sequence Analysis, DNA