Costello syndrome: A Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations

Genetics in Medicine

Volumn 14, Issue 3, 2012, Pages 285-292

  Gripp, Karen W ^a   Lin, Angela E ^b  

^a NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

cancer syndrome; Costello syndrome; germline; HRAS; hypertrophic cardiomyopathy; Noonan syndrome spectrum; Ras MAPK; rasopathy

Indexed keywords

BENZODIAZEPINE; CORTISONE; DNA; GROWTH HORMONE; MITOGEN ACTIVATED PROTEIN KINASE; PAMIDRONIC ACID; RAS PROTEIN;

AMINO ACID SUBSTITUTION; ARNOLD CHIARI MALFORMATION; BRACE; BRAIN DEVELOPMENT; CANCER SUSCEPTIBILITY; CELL DIFFERENTIATION; CELL PROLIFERATION; CLINICAL FEATURE; COSTELLO SYNDROME; DEVELOPMENTAL DISORDER; EMBRYONAL RHABDOMYOSARCOMA; FACE DYSMORPHIA; GASTROESOPHAGEAL REFLUX; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; GERM LINE; GROWTH HORMONE DEFICIENCY; HEART DEVELOPMENT; HEART VENTRICLE HYPERTROPHY; HETEROZYGOTE; HUMAN; HYPOGLYCEMIA; INTELLECTUAL IMPAIRMENT; MEDICAL HISTORY; MODEL; MOOD DISORDER; MORTALITY; MOSAICISM; MUSCULOSKELETAL DISEASE; MUTATIONAL ANALYSIS; NEUROFIBROMATOSIS; NOONAN SYNDROME; OCCUPATIONAL THERAPY; ONCOGENE H RAS; OSTEOPOROSIS; PAPILLOMA; PATHOGENESIS; PERSONALIZED MEDICINE; PHYSIOTHERAPY; PREVALENCE; PROTEIN FUNCTION; QUALITY OF LIFE; REVIEW; SOMATIC MUTATION; TETHERED CORD SYNDROME;

EID: 85027948290     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.0b013e31822dd91f     Document Type: Review

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