The musculoskeletal phenotype of the RASopathies

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 157, Issue 2, 2011, Pages 90-103

  Stevenson, David A ^a   Yang, Feng Chun ^b  

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

^b INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Bone; Cardiofaciocutaneous syndrome; Costello syndrome; NF1; Noonan syndrome

Indexed keywords

B RAF KINASE; CBL PROTEIN; K RAS PROTEIN; MITOGEN ACTIVATED PROTEIN KINASE; NEUROFIBROMIN; PROTEIN TYROSINE PHOSPHATASE SHP 2; RAF PROTEIN; RAS PROTEIN; SOS PROTEIN;

ANGIOOSTEOHYPERTROPHY SYNDROME; ARTICLE; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; BONE BOWING; BONE CELL; BONE CYST; BONE DENSITY; BONE DYSPLASIA; BONE GROWTH; BRACHYDACTYLY; CAPILLARY MALFORMATION ARTERIOVENOUS MALFORMATION SYNDROME; CARDIOFACIOCUTANEOUS SYNDROME; CELL DIFFERENTIATION; CELL FUNCTION; CELL PROLIFERATION; CLINODACTYLY; COSTELLO SYNDROME; DISEASE ASSOCIATION; DURAL ECTASIA; FLATFOOT; FRACTURE; FUNNEL CHEST; GAIT DISORDER; GENE MUTATION; GINGIVA FIBROMATOSIS; HAND MALFORMATION; HARVEY SARCOMA ONCOVIRUS; HIP CONTRACTURE; HUMAN; JOINT CONTRACTURE; JOINT HYPERMOBILITY; KIRSTEN SARCOMA ONCOVIRUS; KYPHOSIS; LEGIUS SYNDROME; LEOPARD SYNDROME; LORDOSIS; MULTIPLE MALFORMATION SYNDROME; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MUSCULOSKELETAL DISEASE; NEUROFIBROMATOSIS; NEUROLOGICAL COMPLICATION; NONHUMAN; NOONAN SYNDROME; ORTHOPEDICS; ORTHOSIS; OSTEOBLAST; OSTEOCLAST; OSTEOCLAST ACTIVITY; OSTEOLYSIS; OSTEOPENIA; OSTEOPOROSIS; PHENOTYPE; PIGEON THORAX; POLYDACTYLY; PRIORITY JOURNAL; PSEUDARTHROSIS; SCOLIOSIS; SHORT STATURE; SKELETON MALFORMATION; SUBLUXATION; SYNDACTYLY;

ANIMALS; BONE AND BONES; GENETIC DISEASES, INBORN; HUMANS; MICE; MUSCULOSKELETAL SYSTEM; PHENOTYPE; PROTO-ONCOGENE PROTEINS P21(RAS); SIGNAL TRANSDUCTION; SYNDROME;

EID: 79955033378     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30296     Document Type: Article

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