A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly

American Journal of Human Genetics

Volumn 85, Issue 6, 2009, Pages 897-902

  Mochida, Ganeshwaran H ^a,b,c,d   Mahajnah, Muhammad ^e,f   Hill, Anthony D ^a,b   Basel Vanagaite, Lina ^g,h,i   Gleason, Danielle ^c   Hill, R Sean ^a,b   Bodell, Adria ^a,b   Crosier, Moira ^j   Straussberg, Rachel ^g,i   Walsh, Christopher A ^a,b,c  

^a HARVARD MEDICAL SCHOOL   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c Manton Center for Orphan Disease Research   (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e HILLEL YAFFE MEDICAL CENTER   (Israel)

^f TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

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

^h RABIN MEDICAL CENTER   (Israel)

ⁱ TEL AVIV UNIVERSITY   (Israel)

^j NEWCASTLE UNIVERSITY   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN ENHANCER BINDING PROTEIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN CORTEX; BRAIN DEVELOPMENT; BRAIN NERVE CELL; CHILD; COGNITION; FEMALE; FUNCTIONAL ASSESSMENT; GENE; GENE EXPRESSION; GENE SEGREGATION; HUMAN; MENTAL DEFICIENCY; MICROCEPHALY; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SCHOOL CHILD; TRAPPC9 GENE;

ANIMALS; BRAIN; CARRIER PROTEINS; CHROMOSOME MAPPING; CONSANGUINITY; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MENTAL RETARDATION; MICE; MICROCEPHALY; MITOSIS; MUTATION; NEURONS; NF-KAPPA B;

EID: 71149100261     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.10.027     Document Type: Article

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