Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome

American Journal of Medical Genetics, Part A

Volumn 152, Issue 1, 2010, Pages 181-184

  Bartsch, Oliver ^a   Labont́e, Janette ^a   Albrecht, Beate ^b   Wieczorek, Dagmar ^b   Lechno, Stanislav ^a   Zechner, Ulrich ^a   Haaf, Thomas ^a  

^a UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^b UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

EP300; Phenotype; Rubinstein Taybi syndrome

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; E1A ASSOCIATED P300 PROTEIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; COGNITIVE DEFECT; EYEBROW; FACE DYSMORPHIA; FEMALE; GENE MUTATION; HALLUX; HUMAN; LEARNING DISORDER; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PALPEBRAL FISSURE ANOMALY; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RARE DISEASE; RETROGNATHIA; RUBINSTEIN SYNDROME; ANAMNESIS; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; FOOT MALFORMATION; GENE IDENTIFICATION; MOLECULAR PATHOLOGY; PHENOTYPIC VARIATION; THUMB MALFORMATION;

ADULT; CHILD, PRESCHOOL; E1A-ASSOCIATED P300 PROTEIN; FEMALE; HUMANS; MALE; MUTATION; RUBINSTEIN-TAYBI SYNDROME;

EID: 75149162868     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33153     Document Type: Article

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