Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D

European Journal of Medical Genetics

Volumn 55, Issue 11, 2012, Pages 615-619

  Lorenz, Sybille ^a   Petersen, Christine ^a   Kordaß, Ulrike ^b,e   Seidel, Heide ^c   Zenker, Martin ^d   Kutsche, Kerstin ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b UNIVERSITY MEDICINE GREIFSWALD   (Germany)

^c TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^d UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^e Institut für Humangenetik   (Germany)

Author keywords

Cardiomyopathy; Costello syndrome; HRAS mutation; Lethal course

Indexed keywords

ANTIARRHYTHMIC AGENT; BETAMETHASONE; CATECHOLAMINE; NUCLEIC ACID BINDING PROTEIN; PHENOBARBITAL; PROTO ONCOGENE PROTEIN HRAS; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; COSTELLO SYNDROME; DEATH; DISEASE ASSOCIATION; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENERALIZED EDEMA; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYDROCEPHALUS; HYPERTROPHIC CARDIOMYOPATHY; LETHALITY; MALE; MISSENSE MUTATION; NEWBORN; PROTO ONCOGENE; RESPIRATORY DISTRESS; SEIZURE; SUBSTITUTION REACTION; SUPRAVENTRICULAR TACHYCARDIA; TACHYCARDIA; TREATMENT OUTCOME;

COSTELLO SYNDROME; FATAL OUTCOME; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; PROTO-ONCOGENE PROTEINS P21(RAS);

EID: 84867142785     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.07.007     Document Type: Article

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