Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1

Journal of Medical Genetics

Volumn 52, Issue 4, 2015, Pages 256-261

  Sant, David W ^a   Margraf, Rebecca L ^a   Stevenson, David A ^b,c,d   Grossmann, Allie H ^a,c   Viskochil, David H ^c   Hanson, Heather ^c   Everitt, Melanie D ^c   Rios, Jonathan J ^e,f,g   Elefteriou, Florent ^h,i   Hennessey, Theresa ^d   Mao, Rong ^a,c  

^a ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

^b STANFORD UNIVERSITY   (United States)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^d SHRINERS HOSPITALS FOR CHILDREN   (United States)

^e TEXAS SCOTTISH RITE HOSPITAL FOR CHILDREN   (United States)

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

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

^h VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

ⁱ VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN TYROSINE PHOSPHATASE SHP 2; RAS PROTEIN;

ALLELE; AMPLICON; ARTICLE; BELOW KNEE AMPUTATION; BONE PAIN; BONE TRANSPLANTATION; CAFE AU LAIT SPOT; CAPILLARY HEMANGIOMA; CASE REPORT; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; DNA DEGRADATION; DNA EXTRACTION; DNA SEQUENCE; EXON; FAMILY HISTORY; FEMALE; FIBULA FRACTURE; GENE DELETION; GENE LOCATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GERMLINE MUTATION; HUMAN; HUMAN TISSUE; LEARNING DISORDER; MEDICAL HISTORY; NEUROFIBROMATOSIS TYPE 1; NONSENSE MUTATION; ONSET AGE; OPEN REDUCTION; OSTEOLYSIS; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PSEUDARTHROSIS; SIGNAL TRANSDUCTION; SOMATIC MUTATION; SPEECH DELAY; TIBIA FRACTURE; TREATMENT FAILURE; TREATMENT OUTCOME; TREATMENT RESPONSE; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; RADIOGRAPHY; TIBIA; TUMOR SUPPRESSOR GENE;

CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, NEUROFIBROMATOSIS 1; HUMANS; MUTATION; NEUROFIBROMATOSIS 1; PSEUDARTHROSIS; TIBIA;

EID: 84930628728     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102815     Document Type: Article

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