Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 5, 2012, Pages 1102-1110

  Burkitt Wright, Emma M M ^a   Bradley, Lisa ^b   Shorto, Jennifer ^a   Mcconnell, Vivienne P M ^b   Gannon, Caroline ^c   Firth, Helen V ^d   Park, Soo Mi ^d   D'Amore, Angela ^d   Munyard, Paul F ^e   Turnpenny, Peter D ^f   Charlton, Amanda ^g   Wilson, Meredith ^g   Kerr, Bronwyn ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b Northern Ireland Regional Genetics Service   (United Kingdom)

^c Belfast Royal Jubilee Hospital   (United Kingdom)

^d ADDENBROOKE S HOSPITAL   (United Kingdom)

^e ROYAL CORNWALL HOSPITAL   (United Kingdom)

^f ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

^g CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

Author keywords

Congenital alveolar dysplasia; Costello syndrome; Dinucleotide insertion deletion mutation; HRAS; Neonatal cardiomyopathy

Indexed keywords

ASPARTIC ACID; GLYCINE; PORACTANT; VALINE;

AMINO ACID SUBSTITUTION; APGAR SCORE; ARTICLE; AUTOPSY; BODY DYSMORPHIC DISORDER; BONE DYSPLASIA; BRONCHOPNEUMONIA; CARDIOVERSION; CASE REPORT; COSTELLO SYNDROME; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; ECHOCARDIOGRAPHY; FACE DYSMORPHIA; FEMALE; FETUS ECHOGRAPHY; HEART ATRIUM ARRHYTHMIA; HEART VENTRICLE HYPERTROPHY; HIGH BIRTH WEIGHT; HISTOPATHOLOGY; HUMAN; HYDRAMNIOS; INDEL MUTATION; LUNG DYSPLASIA; MACROSOMIA; MALE; MISSENSE MUTATION; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEWBORN; NEWBORN MORTALITY; NUCLEOTIDE SEQUENCE; ONCOGENE H RAS; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SUPRAVENTRICULAR TACHYCARDIA; THORAX RADIOGRAPHY;

COSTELLO SYNDROME; DIAGNOSIS, DIFFERENTIAL; GENES, RAS; HEART DEFECTS, CONGENITAL; HUMANS; INDEL MUTATION; INFANT, NEWBORN;

EID: 84859982649     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35296     Document Type: Article

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