TBC1D7 Mutations are Associated with Intellectual Disability, Macrocrania, Patellar Dislocation, and Celiac Disease

Human Mutation

Volumn 35, Issue 4, 2014, Pages 447-451

  Alfaiz, Ali Abdullah ^a,b   Micale, Lucia ^c   Mandriani, Barbara ^c   Augello, Bartolomeo ^c   Pellico, Maria Teresa ^c   Chrast, Jacqueline ^a   Xenarios, Ioannis ^a,b   Zelante, Leopoldo ^c   Merla, Giuseppe ^a,d   Reymond, Alexandre ^a  

^a UNIVERSITY OF LAUSANNE   (Switzerland)

^b SWISS INSTITUTE OF BIOINFORMATICS   (Switzerland)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^d UNIVERSITY OF TRIESTE   (Italy)

Author keywords

Exome sequencing; Intellectual disability; MTORC1; TBC1D7; TSC

Indexed keywords

ARTICLE; ASTIGMATISM; BEHAVIOR DISORDER; CELIAC DISEASE; EXOME; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; INTELLECTUAL IMPAIRMENT; LEARNING DISORDER; MACROCEPHALY; MYOPIA; PATELLA DISLOCATION; PHENOTYPE; PRIORITY JOURNAL; PROGNATHIA; PSYCHOSIS; TBC1D7 GENE; ALEXANDER DISEASE; AUTOPHAGY; CELL LINE; FEMALE; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENETICS; HIGH THROUGHPUT SEQUENCING; HOMOZYGOTE; METABOLISM; MUTATION; PATHOLOGY; PEDIGREE;

CARRIER PROTEIN; EIF4EBP1 PROTEIN, HUMAN; PHOSPHOPROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TBC7 PROTEIN, HUMAN;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AUTOPHAGY; CARRIER PROTEINS; CELIAC DISEASE; CELL LINE; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MEGALENCEPHALY; MUTATION; PATELLAR DISLOCATION; PEDIGREE; PHOSPHOPROTEINS;

EID: 84896109407     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22529     Document Type: Article

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