Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia

Clinical Genetics

Volumn 73, Issue 6, 2008, Pages 554-565

  Tekin, M ^a   Ozturkmen Akay H ^b   Fitoz, S ^a   Birnbaum, S ^c   Cengiz, F B ^a   Sennaroglu L ^d   Incesulu, A ^e   Yüksel, Konuk ^a   Hasanefendioglu Bayrak A ^b   Senturk S ^b   Cebeci, I ^a   Utine G E ^d   Tuncbilek E ^f   Nance, W E ^a   Duman, D ^a  

^a ANKARA UNIVERSITY   (Turkey)

^b DICLE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^c UNIVERSITY OF BONN   (Germany)

^d HACETTEPE UNIVERSITY   (Turkey)

^e OSMANGAZI UNIVERSITY MEDICAL FACULTY   (Turkey)

^f VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

Author keywords

Deafness; FGF3; Hearing loss; Michel aplasia; Microdontia; Microtia

Indexed keywords

FIBROBLAST GROWTH FACTOR 3; ISOLEUCINE; LEUCINE; METHIONINE; PROLINE;

ADOLESCENT; ADULT; AGED; ARTICLE; CAUSAL ATTRIBUTION; CHILD; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL DEAFNESS; CONGENITAL DEAFNESS WITH INNER EAR AGENESIS MICROTIA AND MICRODONTIA; CONTROLLED STUDY; FAMILY; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INFANT; INNER EAR MALFORMATION; MALE; MICROTIA; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN SECRETION; SIGNAL TRANSDUCTION; TOOTH MALFORMATION;

ADOLESCENT; ADULT; BLOOD VESSELS; CHILD; DEAFNESS; DNA MUTATIONAL ANALYSIS; EAR, INNER; FEMALE; FIBROBLAST GROWTH FACTOR 3; HOMOZYGOTE; HUMANS; INFANT; MALE; MUTATION; NUCLEAR FAMILY; TOOTH ABNORMALITIES;

EID: 43449118688     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01004.x     Document Type: Article

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