Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap cornelia de lange syndrome

American Journal of Medical Genetics, Part A

Volumn 164, Issue 1, 2014, Pages 251-258

  Woods, Susan A ^a   Robinson, Haynes B ^a   Kohler, Lisa J ^b   Agamanolis, Dimitris ^a   Sterbenz, George ^b   Khalifa, Mohamed ^a  

^a AKRON CHILDREN'S HOSPITAL   (United States)

^b Summit County Medical Examiner's Office   (United States)

Author keywords

Cornelia de Lange syndrome; EP300; MCA ID; Rubinstein Taybi syndrome; Whole exome sequencing

Indexed keywords

E1A ASSOCIATED P300 PROTEIN; HISTONE DEACETYLASE 8; EP300 PROTEIN, HUMAN;

ARTICLE; AUTOPSY; CASE REPORT; CHILD; CLINICAL FEATURE; DE LANGE SYNDROME; DISEASE ASSOCIATION; DISEASE SEVERITY; EP300 GENE; EXOME; FACIES; FRAMESHIFT MUTATION; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; HUMAN; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROSTHESIS; RUBINSTEIN SYNDROME; SCOLIOSIS; SEQUENCE ANALYSIS; SKELETON MALFORMATION; THORAX MALFORMATION; DIFFERENTIAL DIAGNOSIS; FATALITY; GENETICS; HETEROZYGOTE; INFANT; PHENOTYPE; RUBINSTEIN-TAYBI SYNDROME;

AUTOPSY; DE LANGE SYNDROME; DIAGNOSIS, DIFFERENTIAL; E1A-ASSOCIATED P300 PROTEIN; EXOME; FACIES; FATAL OUTCOME; FRAMESHIFT MUTATION; HETEROZYGOTE; HUMANS; INFANT; MALE; PHENOTYPE; RUBINSTEIN-TAYBI SYNDROME;

EID: 84890797709     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36237     Document Type: Article

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