Further case of rubinstein-taybi syndrome due to a deletion in EP300

American Journal of Medical Genetics, Part A

Volumn 149, Issue 5, 2009, Pages 997-1000

  Foley, Patricia ^a   Bunyan, David ^b   Stratton, John ^c   Dillon, Michelle ^d   Lynch, Sally Ann ^a  

^a OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^b SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^c WATERFORD REGIONAL HOSPITAL   (Ireland)

^d St Lukes General Hospital Kilkenny   (Ireland)

Author keywords

EP300; HELLP syndrome; Mul Lerian tumor; Pre eclampsia; Rubinstein taybi

Indexed keywords

E1A ASSOCIATED P300 PROTEIN;

ANAMNESIS; ARTICLE; CASE REPORT; CESAREAN SECTION; CHILD; CLINICAL FEATURE; EXON; FACE DYSMORPHIA; GENE DELETION; HELLP SYNDROME; HUMAN; MALE; MIXED MULLERIAN TUMOR; PHENOTYPE; PREECLAMPSIA; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RUBINSTEIN SYNDROME;

CHILD; CHROMOSOMES, HUMAN, PAIR 22; DNA MUTATIONAL ANALYSIS; E1A-ASSOCIATED P300 PROTEIN; HUMANS; MALE; RUBINSTEIN-TAYBI SYNDROME; SEQUENCE DELETION;

EID: 66849111902     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32771     Document Type: Article

References (8)

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