A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation—a review of the literature

European Journal of Pediatrics

Volumn 175, Issue 4, 2016, Pages 587-592

  Nemcikova, Michaela ^a   Vejvalkova, Sarka ^a   Fencl, Filip ^a   Sukova, Martina ^a   Krepelova, Anna ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

Author keywords

Leukopenia; Myeloproliferative; Noonan syndrome; RASopathies; RIT1

Indexed keywords

ANTIBIOTIC AGENT; B RAF KINASE; BIOLOGICAL MARKER; CBL PROTEIN; HEMOGLOBIN; IRON; K RAS PROTEIN; MAP2K1 PROTEIN; MAP2K2 PROTEIN; PROTEIN TYROSINE PHOSPHATASE SHP 2; RIT1 PROTEIN; RRAS PROTEIN; SHOC2 PROTEIN; SOS PROTEIN; STEROID; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR 1; UNCLASSIFIED DRUG; RAS PROTEIN; RIT1 PROTEIN, HUMAN;

ADULT; ANEMIA; ANTEVERTED NOSTRIL; ANTIBIOTIC THERAPY; APGAR SCORE; ARTICLE; ARTIFICIAL VENTILATION; ASPHYXIA; BLOOD CELL COUNT; BONE MARROW EXAMINATION; CANDIDIASIS; CASE REPORT; CELL VOLUME; CHILD; CHYLOTHORAX; CLINICAL EXAMINATION; CRYPTORCHISM; DISEASE COURSE; DISEASE SEVERITY; DNA DETERMINATION; ECHOCARDIOGRAPHY; EXON; FACE DYSMORPHIA; FACIES; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HEMODYNAMICS; HEPATOMEGALY; HEPATOSPLENOMEGALY; HETEROZYGOTE; HUMAN; HUMAN CELL; HYDRAMNIOS; HYPERPLASIA; HYPERTELORISM; INTENSIVE CARE; IRON DEFICIENCY; IRON THERAPY; KARYOTYPE 46,XY; LEUKOPENIA; LONG PHILTRUM; LOW SET EAR; MALE; MEDICAL GENETICS; MISSENSE MUTATION; MONOCYTOSIS; MULTIPLE ORGAN FAILURE; MUSCLE HYPOTONIA; MYELOPROLIFERATIVE DISORDER; NEUTROPENIA; NOONAN SYNDROME; ONCOGENE H RAS; ONCOGENE N RAS; ORCHIDOPEXY; PALLOR; PALPEBRAL FISSURE; PHENOTYPE; PHYSIOTHERAPY; PIGEON THORAX; PNEUMONIA; PREMATURITY; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; PULMONARY VALVE STENOSIS; RESPIRATORY DISTRESS SYNDROME; RESPIRATORY FAILURE; SPLENOMEGALY; STEROID THERAPY; THROMBOCYTE COUNT; THROMBOCYTOPENIA; FEMALE; GENETICS; MYELOPROLIFERATIVE DISORDERS; PREGNANCY;

CHILD, PRESCHOOL; FEMALE; HETEROZYGOTE; HUMANS; LEUKOPENIA; MALE; MUTATION, MISSENSE; MYELOPROLIFERATIVE DISORDERS; NOONAN SYNDROME; PHENOTYPE; PREGNANCY; RAS PROTEINS;

EID: 84945560213     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-015-2658-6     Document Type: Article

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