TRAPPC9-related autosomal recessive intellectual disability: Report of a new mutation and clinical phenotype

European Journal of Human Genetics

Volumn 21, Issue 2, 2013, Pages 229-232

  Marangi, Giuseppe ^a   Leuzzi, Vincenzo ^b   Manti, Filippo ^b   Lattante, Serena ^a   Orteschi, Daniela ^a   Pecile, Vanna ^c   Neri, Giovanni ^a   Zollino, Marcella ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

Author keywords

Autosomal recessive intellectual disability; exome sequencing; TRAPPC9

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; EXOME; EXON SKIPPING; FEMALE; FRAMESHIFT MUTATION; GENE; GENETIC ASSOCIATION; HUMAN; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TRAPPC9 GENE;

CARRIER PROTEINS; CONSANGUINITY; EXONS; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; HOMOZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MIDDLE EAST; MUTATION; OBESITY; PEDIGREE; PRADER-WILLI SYNDROME;

EID: 84872486706     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.79     Document Type: Article

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