Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia

Human Molecular Genetics

Volumn 23, Issue 2, 2014, Pages 397-407

  Lim, Young H ^a   Ovejero, Diana ^b,e   Sugarman, Jeffrey S ^f   DeKlotz, Cynthia M C ^g,i,j   Maruri, Ann ^k,l   Eichenfield, Lawrence F ^g,i,j   Kelley, Patrick K ⁿ   Jüppner, Harald ^o   Gottschalk, Michael ^h,k   Tifft, Cynthia J ^c,p   Gafni, Rachel I ^b   Boyce, Alison M ^b,q   Cowen, Edward W ^d   Bhattacharyya, Nisan ^b   Guthrie, Lori C ^b   Gahl, William A ^c,p   Golas, Gretchen ^c,p   Loring, Erin C ^a   Overton, John D ^a   Mane, Shrikant M ^a   Lifton, Richard P ^a   Levy, Moise L ^m,r,s   Collins, Michael T ^b   Choate, Keith A ^a   more..

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

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

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d NATIONAL CANCER INSTITUTE   (United States)

^e UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g Pediatric and Adolescent Dermatology   (United States)

^h RADY CHILDREN'S HOSPITAL   (United States)

ⁱ UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^j UNIVERSITY OF CALIFORNIA   (United States)

^k Pediatric Care of Ogden   (United States)

^l UNIVERSITY OF UTAH   (United States)

^m Pediatric/Adolescent Dermatology   (United States)

ⁿ DELL INC   (United States)

^o MASSACHUSETTS GENERAL HOSPITAL   (United States)

^p NATIONAL INSTITUTES OF HEALTH   (United States)

^q CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^r UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^s BAYLOR COLLEGE OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR 23; H RAS PROTEIN; N RAS PROTEIN; RAS PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BONE DYSPLASIA; BONE LESION; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; EXOME; FEMALE; GENE SEQUENCE; HUMAN; HYPOPHOSPHATEMIA; MALE; MELANOCYTIC NEVUS; OSTEOMALACIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN DEFECT; SOMATIC MUTATION;

ADOLESCENT; CHILD; EXOME; FEMALE; FIBROBLAST GROWTH FACTORS; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GTP PHOSPHOHYDROLASES; HUMANS; HYPOPHOSPHATEMIA; MALE; MEMBRANE PROTEINS; MUTATION; NEVUS, PIGMENTED; OSTEOMALACIA; PROTO-ONCOGENE PROTEINS P21(RAS); SEQUENCE ANALYSIS, DNA; SKIN; SKIN NEOPLASMS;

EID: 84902283348     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt429     Document Type: Article

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