A de novo mutation in TEAD1 causes non–X-linked aicardi syndrome

Investigative Ophthalmology and Visual Science

Volumn 56, Issue 6, 2015, Pages 3896-3904

  Schrauwen, Isabelle ^a,b   Szelinger, Szabolcs ^a   Siniard, Ashley L ^a   Corneveaux, Jason J ^a   Kurdoglu, Ahmet ^a   Richholt, Ryan ^a   De Both, Matt ^a   Malenica, Ivana ^a   Swaminathan, Shanker ^a   Rangasamy, Sampathkumar ^a   Kulkarni, Neil ^c   Bernes, Saunder ^c   Buchhalter, Jeffrey ^d   Ramsey, Keri ^a   Craig, David W ^a   Narayanan, Vinodh ^a   Huentelman, Matthew J ^a  

^a TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c PHOENIX CHILDREN'S HOSPITAL   (United States)

^d UNIVERSITY OF CALGARY   (Canada)

Author keywords

Aicardi; Retinal lacunae; Seizure; TEAD1; X linked

Indexed keywords

PROTEIN; TEAD1 PROTEIN; UNCLASSIFIED DRUG; DNA BINDING PROTEIN; NUCLEAR PROTEIN; TEAD1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADULT; AICARDI SYNDROME; APOPTOSIS; ARTICLE; CELL CYCLE REGULATION; CHILD; CHOROID GYRATE ATROPHY; CLINICAL ARTICLE; CLINICAL FEATURE; DOWN REGULATION; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; MALE; NERVE CELL PLASTICITY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; RETINA DEGENERATION; RNA SEQUENCE; UPREGULATION; DNA SEQUENCE; GENE EXPRESSION PROFILING; GENETIC PREDISPOSITION; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PROCEDURES; SEQUENCE ANALYSIS;

ADULT; AICARDI SYNDROME; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GENE EXPRESSION PROFILING; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION; NUCLEAR PROTEINS; SEQUENCE ANALYSIS, DNA; SEQUENCE ANALYSIS, RNA; TRANSCRIPTION FACTORS;

EID: 84939824208     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.14-16261     Document Type: Article

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