Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for treacher collins syndrome with intellectual disability

European Journal of Human Genetics

Volumn 22, Issue 1, 2014, Pages 52-56

  Vincent, Marie ^a   Collet, Corinne ^b   Verloes, Alain ^c,d   Lambert, Laetitia ^e   Herlin, Christian ^f   Blanchet, Catherine ^f   Sanchez, Elodie ^a   Drunat, Séverine ^c   Vigneron, Jacqueline ^d   Laplanche, Jean Louis ^b   Puechberty, Jacques ^a   Sarda, Pierre ^a   Geneviève, David ^a  

^a HÔPITAL ARNAUD DE VILLENEUVE   (France)

^b HÔPITAL LARIBOISIÈRE   (France)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d UNIVERSITY OF LIÈGE   (Belgium)

^e CHU NANCY BRABOIS   (France)

^f MONTPELLIER UNIVERSITY HOSPITAL   (France)

Author keywords

CAMK2A; intellectual disability; mandibulofacial dysostosis; TCOF1; Treacher Collins syndrome

Indexed keywords

ARYLSULFATASE; ARYLSULFATASE 1; CALCIUM CALMODULIN DEPENDENT PROTEIN KINASE II; CARRIER PROTEIN; PROTEIN; RISPERIDONE; SLC6A7 PROTEIN; TCOF1 PROTEIN; TRANSCRIPTION FACTOR CDX1; UNCLASSIFIED DRUG; CAMK2A PROTEIN, HUMAN; NUCLEAR PROTEIN; PHOSPHOPROTEIN; TCOF1 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; ATTENTION DEFICIT DISORDER; BEHAVIOR DISORDER; CASE REPORT; CHILD; CLINICAL FEATURE; CONDUCTION DEAFNESS; DNA SEQUENCE; EXON; FEMALE; GENE DELETION; HUMAN; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; MALE; MANDIBULOFACIAL DYSOSTOSIS; MICROTIA; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL; READING; RETROGNATHIA; SCHOOL CHILD; WRITING; GENETICS; HIGH THROUGHPUT SEQUENCING; INTELLECTUAL DISABILITY; MUTATION; PATHOLOGY;

ADOLESCENT; CALCIUM-CALMODULIN-DEPENDENT PROTEIN KINASE TYPE 2; CHILD; FEMALE; GENE DELETION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTELLECTUAL DISABILITY; MALE; MANDIBULOFACIAL DYSOSTOSIS; MUTATION; NUCLEAR PROTEINS; PHOSPHOPROTEINS;

EID: 84890805398     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.98     Document Type: Article

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