Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion

American Journal of Medical Genetics, Part A

Volumn 167, Issue 3, 2015, Pages 537-544

  Tassano, Elisa ^a   Jagannathan, Vidhya ^b   Drögemüller, Cord ^b   Leoni, Massimiliano ^a   Hytönen, Marjo K ^c,g   Severino, Mariasavina ^a   Gimelli, Stefania ^d   Cuoco, Cristina ^a   Di Rocco, Maja ^a   Sanio, Kirsi ^e   Groves, Andrew K ^f   Leeb, Tosso ^b   Gimelli, Giorgio ^a  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF BERN   (Switzerland)

^c UNIVERSITY OF HELSINKI   (Finland)

^d GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^e UNIVERSITY OF HELSINKI   (Finland)

^f BAYLOR COLLEGE OF MEDICINE   (United States)

^g The Folkhä lsan Institute of Genetics   (Finland)

Author keywords

Agenesis of internal carotid artery; Array CGH; Congenital aural atresia; Deletion; FOXI3

Indexed keywords

IMMUNOGLOBULIN KAPPA CHAIN; FORKHEAD TRANSCRIPTION FACTOR; FOXI3 PROTEIN, HUMAN;

ARTICLE; AUDITORY CANAL STENOSIS; CASE REPORT; CHROMOSOME 2; CHROMOSOME ANALYSIS; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL AURAL ATRESIA; CRANIOFACIAL MALFORMATION; CYANOSIS; EAR MALFORMATION; EIF2AK3 GENE; EVOKED AUDITORY RESPONSE; EXON; FABP1 GENE; FEMALE; FOXI3 GENE; GENE; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENE MUTATION; GENOTYPE; HEMIZYGOSITY; HETEROZYGOSITY; HUMAN; KRCC1 GENE; MICROTIA; NONHUMAN; PHENOTYPE; RPIA GENE; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SMYD1 GENE; STENOSIS; STOP CODON; TEX37 GENE; THNSL2 GENE; ABNORMALITIES; ABNORMALITIES, MULTIPLE; ANGIOGRAPHY; ANIMAL; CHROMOSOME BANDING PATTERN; CONGENITAL ABNORMALITIES; DOG; EAR; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ASSOCIATION STUDY; GENETICS; GENOME-WIDE ASSOCIATION STUDY; GENOMICS; INTERNAL CAROTID ARTERY; X-RAY COMPUTED TOMOGRAPHY;

ANIMALIA; CANIS FAMILIARIS; DANIO RERIO; MUS;

ABNORMALITIES, MULTIPLE; ANGIOGRAPHY; ANIMALS; CAROTID ARTERY, INTERNAL; CHROMOSOME BANDING; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL ABNORMALITIES; DOGS; EAR; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GENE DELETION; GENETIC ASSOCIATION STUDIES; GENOME-WIDE ASSOCIATION STUDY; GENOMICS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; PHENOTYPE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84923096219     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36895     Document Type: Article

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