Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome

Molecular Syndromology

Volumn 6, Issue 2, 2015, Pages 99-103

  Masuda, Koji ^a   Akiyama, Kazuhiro ^a   Arakawa, Michiko ^d   Nishi, Eriko ^b,d   Kitazawa, Noritaka ^e   Higuchi, Tsukasa ^f   Katou, Yuki ^a   Shirahige, Katsuhiko ^a,c   Izumi, Kosuke ^a,d  

^a UNIVERSITY OF TOKYO   (Japan)

^b SHINSHU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^d Saitama Children's Med C   (Japan)

^e Department of Ophthalmology ^*  (Japan)

^f NAGANO CHILDREN'S HOSPITAL   (Japan)

Author keywords

Coloboma; EP300 mutation; Imperforate anus; Rubinstein Taybi syndrome

Indexed keywords

E1A ASSOCIATED P300 PROTEIN; GENOMIC DNA;

ANOPLASTY; ANUS ATRESIA; CASE REPORT; CHILD; EXOME; FACE ASYMMETRY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE SEQUENCE; HEART FAILURE; HUMAN; INTRAUTERINE GROWTH RETARDATION; IRIS COLOBOMA; KARYOTYPING; MICROPHTHALMIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; REVIEW; RUBINSTEIN SYNDROME; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84937822690     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000375542     Document Type: Review

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