Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2

Pediatric Neurology

Volumn 49, Issue 6, 2013, Pages 411-416.e1

  Hellman Aharony, Shlomit ^a   Smirin Yosef, Pola ^a   Halevy, Ayelet ^b   Pasmanik Chor, Metsada ^a   Yeheskel, Adva ^a   Har Zahav, Adi ^a   Maya, Idit ^b   Straussberg, Rachel ^a,b   Dahary, Dvir ^c   Haviv, Ami ^c   Shohat, Mordechai ^a,b   Basel Vanagaite, Lina ^a,b  

^a TEL AVIV UNIVERSITY   (Israel)

^b SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^c Toldot Genetics Ltd   (Israel)

Author keywords

autosomal recessive; corpus callosum; Microcephaly syndrome; pyramidal; TAF2

Indexed keywords

RNA POLYMERASE II;

ANALYSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOINFORMATICS; CLINICAL FEATURE; CORPUS CALLOSUM; EXOME; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; INTELLECTUAL IMPAIRMENT; MICROCEPHALY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

AUTOSOMAL RECESSIVE; CORPUS CALLOSUM; MICROCEPHALY SYNDROME; PYRAMIDAL; TAF2;

CHROMOSOMES, HUMAN, PAIR 8; COMPUTATIONAL BIOLOGY; CORPUS CALLOSUM; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HISTIDINE; HUMANS; INFANT; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; MALE; MICROCEPHALY; MUTATION; PROLINE; TATA-BINDING PROTEIN ASSOCIATED FACTORS; TRANSCRIPTION FACTOR TFIID;

EID: 84888304234     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2013.07.017     Document Type: Article

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