Postzygotic HRAS mutation causing both keratinocytic epidermal nevus and thymoma and associated with bone dysplasia and hypophosphatemia due to elevated FGF23

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 1, 2014, Pages

  Avitan Hersh, Emily ^a   Tatur, Sameh ^a   Indelman, Margarita ^a   Gepstein, Vardit ^a   Shreter, Roni ^a   Hershkovitz, Dov ^a   Brick, Riva ^a,b   Bergman, Reuven ^a,b   Tiosano, Dov ^a,b  

^a MEYER CHILDREN S HOSPITAL   (Israel)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

25 HYDROXYVITAMIN D; CALCITRIOL; FIBROBLAST GROWTH FACTOR 23; PHOSPHORUS;

ACANTHOSIS; ADOLESCENT; ARM; ARTICLE; BONE DYSPLASIA; CASE REPORT; CLINICAL FEATURE; CODON; DISEASE ASSOCIATION; ECHOGRAPHY; GENE; GENE MUTATION; HETEROZYGOSITY; HRAS GENE; HUMAN; HYPERKERATOSIS; HYPOPHOSPHATEMIA; KERATINOCYTIC EPIDERMAL NEVI; MALE; MEDIASTINUM MASS; MUSCLE HYPOTONIA; NEVUS; NUCLEAR MAGNETIC RESONANCE IMAGING; PAPILLOMATOSIS; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PUNCH BIOPSY; SKIN BIOPSY; SPINE TUMOR; THYMOMA; VITAMIN BLOOD LEVEL; X RAY;

ADOLESCENT; BONE DISEASES, DEVELOPMENTAL; FIBROBLAST GROWTH FACTORS; GENES, RAS; HUMANS; HYPOPHOSPHATEMIA; KERATINOCYTES; MALE; MUTATION; NEVUS, PIGMENTED; SKIN NEOPLASMS; THYMOMA; THYMUS NEOPLASMS; UP-REGULATION; ZYGOTE;

EID: 84892148047     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-2813     Document Type: Article

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