Clinical case seminar: 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

Journal of Clinical Endocrinology and Metabolism

Volumn 91, Issue 2, 2006, Pages 365-370

  Goji, Katsumi ^a   Ozaki, Kayo ^a   Sadewa, Ahmad H ^b   Nishio, Hisahide ^b   Matsuo, Masafumi ^b  

^a KOBE CHILDREN S HOSPITAL   (Japan)

^b KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALFACALCIDOL; FIBROBLAST GROWTH FACTOR 23; PHEX PROTEIN; PROTEIN; SODIUM DIHYDROGEN PHOSPHATE; UNCLASSIFIED DRUG; DNA; FIBROBLAST GROWTH FACTOR; MEMBRANE PROTEIN; METALLOPROTEINASE; PHEX PROTEIN, HUMAN; PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE;

ADULT; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHILD; CONFERENCE PAPER; DAUGHTER; DISEASE TRANSMISSION; FATHER; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC TRAIT; GENOTYPE; HAIR ROOT; HAPLOTYPE; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INHERITANCE; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; SEX CHROMOSOME MOSAICISM; VITAMIN D RESISTANT RICKETS; X CHROMOSOME; ARTICLE; DNA SEQUENCE; GENETICS; HYPOPHOSPHATEMIA; MOSAICISM; MUTATION; POINT MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD;

ADULT; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; DNA; FEMALE; FIBROBLAST GROWTH FACTORS; GERM-LINE MUTATION; HAPLOTYPES; HUMANS; HYPOPHOSPHATEMIA, FAMILIAL; MALE; MEMBRANE GLYCOPROTEINS; METALLOENDOPEPTIDASES; MOSAICISM; PEDIGREE; PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; POINT MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 32544458785     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2005-1776     Document Type: Conference Paper

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