Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Wen, Jiadi ^a   Lopes, Fátima ^b,c   Soares, Gabriela ^d   Farrell, Sandra A ^e   Nelson, Cara ^f   Qiao, Ying ^a   Martell, Sally ^a   Badukke, Chansonette ^a   Bessa, Carlos ^b,c   Ylstra, Bauke ^g   Lewis, Suzanne ^a   Isoherranen, Nina ^f   Maciel, Patricia ^b,c   Rajcan Separovic, Evica ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF MINHO   (Portugal)

^c UNIVERSITY OF MINHO   (Portugal)

^d NATIONAL INSTITUTE OF HEALTH   (Portugal)

^e CREDIT VALLEY HOSPITAL   (Canada)

^f UNIVERSITY OF WASHINGTON   (United States)

^g VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

2p13 deletion; Cranial skeletal anomalies; CYP26B1; Developmental delay; EXOC6B

Indexed keywords

CYTOCHROME; CYTOCHROME P450 26B1; EXOCYST; EXOCYST COMPLEX COMPONENT 6B; GENOMIC DNA; NOTCH RECEPTOR; RETINOIC ACID; UNCLASSIFIED DRUG;

ARTICLE; BRAIN DEVELOPMENT; CASE REPORT; CRANIOFACIAL MALFORMATION; DNA EXTRACTION; EAR MALFORMATION; EXOCYTOSIS; FACE ASYMMETRY; FACIAL NERVE PARALYSIS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE EXPRESSION; GENETIC ANALYSIS; HAPLOINSUFFICIENCY; HUMAN; HYPERACTIVITY; INTELLECTUAL IMPAIRMENT; LANGUAGE DELAY; LYMPHOBLAST; MALE; MICRODELETION; MORPHOGENESIS; MUSCULOSKELETAL DEVELOPMENT; PHENOTYPE; SIGNAL TRANSDUCTION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; BONE DISEASES, DEVELOPMENTAL; CELL LINE; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; CRANIOFACIAL ABNORMALITIES; CYTOCHROME P-450 ENZYME SYSTEM; DEVELOPMENTAL DISABILITIES; EXOCYTOSIS; GENOTYPE; GTP-BINDING PROTEINS; HAPLOINSUFFICIENCY; HUMANS; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; TRETINOIN;

EID: 84879999423     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-100     Document Type: Article

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