Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

European Journal of Human Genetics

Volumn 23, Issue 4, 2015, Pages 481-485

  Tavares, Vanessa L Romanelli ^a   Gordon, Christopher T ^b   Zechi Ceide, Roseli M ^a   Kokitsu Nakata, Nancy Mizue ^a   Voisin, Norine ^b   Tan, Tiong Y ^c   Heggie, Andrew A ^d   Vendramini Pittoli, Siulan ^a   Propst, Evan J ^e   Papsin, Blake C ^e   Torres, Tatiana T ^a   Buermans, Henk ^f   Capelo, Luciane Portas ^a,g,h   Den Dunnen, Johan T ^f   Guion Almeida, Maria L ^a   Lyonnet, Stanislas ^b   Amiel, Jeanne ^b   Passos Bueno, Maria Rita ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b IMAGINE INSTITUTE   (France)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d ROYAL CHILDREN'S HOSPITAL   (Australia)

^e HOSPITAL FOR SICK CHILDREN   (Canada)

^f LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^g FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^h HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA INHIBITING ACTIVITY POLYPEPTIDE 3; NUCLEOTIDE BINDING PROTEIN; UNCLASSIFIED DRUG; GNAI3 PROTEIN, HUMAN; INHIBITORY GUANINE NUCLEOTIDE BINDING PROTEIN;

ARTICLE; AURICULOCONDYLAR SYNDROME; CASE REPORT; CONDUCTION DEAFNESS; CONDYLE DYSPLASIA; CRANIOFACIAL MALFORMATION; DYSPLASIA; EXON; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; LINKAGE ANALYSIS; MICROGNATHIA; MISSENSE MUTATION; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; ABNORMALITIES; BRANCHIAL ARCH; BRAZIL; EAR; EAR DISEASES; FEMALE; GENETIC VARIATION; GENETICS; MALE; METABOLISM; PEDIGREE; PHENOTYPE; PROTEIN CONFORMATION;

BRANCHIAL REGION; BRAZIL; EAR; EAR DISEASES; FEMALE; GENETIC VARIATION; GTP-BINDING PROTEIN ALPHA SUBUNITS, GI-GO; HUMANS; MALE; PEDIGREE; PHENOTYPE; PROTEIN CONFORMATION;

EID: 84924697136     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.132     Document Type: Article

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