Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a multilineage somatic mosaic RASopathy

Journal of the American Academy of Dermatology

Volumn 75, Issue 2, 2016, Pages 420-427

  Lim, Young H ^a   Ovejero, Diana ^b,c   Derrick, Kristina M ^d   Collins, Michael T ^b   Choate, Keith A ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NATIONAL INSTITUTE OF DENTAL AND CRANIOFACIAL RESEARCH   (United States)

^c UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^d ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

congenital melanocytic nevus; cutaneous skeletal hypophosphatemia syndrome; epidermal nevus; fibroblast growth factor 23; mosaicism; nevus syndrome; rickets

Indexed keywords

BUROSUMAB; FIBROBLAST GROWTH FACTOR 23; MITOGEN ACTIVATED PROTEIN KINASE; FIBROBLAST GROWTH FACTOR; KRN23 MONOCLONAL ANTIBODY; MONOCLONAL ANTIBODY;

BONE LESION; CUTANEOUS SKELETAL HYPOPHOSPHATEMIA SYNDROME; FAMILIAL HYPOPHOSPHATEMIC RICKETS; GENETIC ASSOCIATION; GENODERMATOSIS; HISTOPATHOLOGY; HUMAN; HYPOPHOSPHATEMIA; HYPOPHOSPHATEMIC RICKETS; MEDLINE; MOSAICISM; NEVUS; NONHUMAN; ONCOGENE H RAS; ONCOGENE K RAS; ONCOGENE N RAS; PATHOLOGY; PIGMENTED NEVUS; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN PROTEIN INTERACTION; RADIOGRAPHY; REGULATORY MECHANISM; REVIEW; RICKETS; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; SKIN DEFECT; SOMATIC MUTATION; BLOOD; GENETICS; NEVUS, PIGMENTED; ONCOGENE RAS; OSTEOMALACIA; RICKETS, HYPOPHOSPHATEMIC; SKIN NEOPLASMS; SYNDROME;

ANTIBODIES, MONOCLONAL; FIBROBLAST GROWTH FACTORS; GENES, RAS; HUMANS; MOSAICISM; NEVUS, PIGMENTED; OSTEOMALACIA; RICKETS, HYPOPHOSPHATEMIC; SKIN NEOPLASMS; SYNDROME;

EID: 84992109403     PISSN: 01909622     EISSN: 10976787     Source Type: Journal    
DOI: 10.1016/j.jaad.2015.11.012     Document Type: Review

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