Neonatal pulmonary arterial hypertension and Noonan syndrome: Two fatal cases with a specific RAF1 mutation

American Journal of Medical Genetics, Part A

Volumn 167, Issue 4, 2015, Pages 882-885

  Hopper, Rachel K ^a   Feinstein, Jeffrey A ^a   Manning, Melanie A ^a   Benitz, William ^a   Hudgins, Louanne ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Noonan syndrome; Pulmonary arterial hypertension; Raf 1

Indexed keywords

DOPAMINE; RAF PROTEIN; SILDENAFIL; TREPROSTINIL;

ACUTE KIDNEY FAILURE; ANASARCA; ANURIA; ARTICLE; BRAIN HEMORRHAGE; CARDIOMEGALY; CASE REPORT; CHRONIC LUNG DISEASE; COMPUTED TOMOGRAPHIC ANGIOGRAPHY; DRUG DOSE ESCALATION; DRUG DOSE INCREASE; DRUG TOLERABILITY; ECHOCARDIOGRAPHY; ENZYME PHOSPHORYLATION; GENE MUTATION; GENETIC ASSOCIATION; HEART CATHETERIZATION; HEART LEFT RIGHT SHUNT; HEART LEFT VENTRICLE HYPERTROPHY; HEART RIGHT VENTRICLE HYPERTROPHY; HUMAN; HYPOCALCEMIA; HYPONATREMIA; HYPOTENSION; INFANT; INTUBATION; MALE; METABOLIC ALKALOSIS; MICROGNATHIA; MUTATIONAL ANALYSIS; NOONAN SYNDROME; PATENT DUCTUS ARTERIOSUS; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; PULMONARY HYPERTENSION; RAF1 GENE; RESPIRATORY DISTRESS; SEPSIS; SIGNAL TRANSDUCTION; THORAX RADIOGRAPHY; TREATMENT OUTCOME; TREATMENT WITHDRAWAL; WEBBED NECK; FATALITY; GENETICS; HETEROZYGOTE; HYPERTENSION, PULMONARY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE;

DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; GENETIC ASSOCIATION STUDIES; HETEROZYGOTE; HUMANS; HYPERTENSION, PULMONARY; INFANT; MALE; MUTATION, MISSENSE; NOONAN SYNDROME; PROTO-ONCOGENE PROTEINS C-RAF;

EID: 84925773179     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37024     Document Type: Article

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