Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome

American Journal of Human Genetics

Volumn 91, Issue 6, 2012, Pages 1122-1127

  Schuurs Hoeijmakers, Janneke H M ^a   Oh, Edwin C ^b   Vissers, Lisenka E L M ^a   Swinkels, Mariëlle E M ^c   Gilissen, Christian ^a   Willemsen, Michèl A ^d,e   Holvoet, Maureen ^f   Steehouwer, Marloes ^a   Veltman, Joris A ^a   De Vries, Bert B A ^a,e   Van Bokhoven, Hans ^a,e   De Brouwer, Arjan P M ^a,e   Katsanis, Nicholas ^b,g   Devriendt, Koenraad ^f   Brunner, Han G ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b DUKE UNIVERSITY   (United States)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e RADBOUD UNIVERSITY   (Netherlands)

^f UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^g DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; PROTEIN PACS1; TRANSCRIPTION FACTOR SOX10; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ARTICLE; CASE REPORT; CELL MIGRATION; CLINICAL FEATURE; EMBRYO; EXOME; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; NEURAL CREST CELL; NEWBORN; NONHUMAN; NUCLEOTIDE SEQUENCE; PACS 1 GENE; PRIORITY JOURNAL; PROTEIN FUNCTION; SEQUENCE ANALYSIS;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; FACIES; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION; NEURAL CREST; SYNDROME; VESICULAR TRANSPORT PROTEINS; ZEBRAFISH;

DANIO RERIO;

EID: 84870861368     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.10.013     Document Type: Article

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