Branchio-oto-renal syndrome (BOR): Novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR

Human Mutation

Volumn 29, Issue 4, 2008, Pages 537-544

  Orten, Dana J ^a   Fischer, Stephanie M ^b   Sorensen, Jessica L ^b   Radhakrishna, Uppala ^a   Cremers, Cor W R J ^c   Marres, Henri A M ^c   Van Camp, Guy ^d   Welch, Katherine O ^e   Smith, Richard J H ^b   Kimberling, William J ^a  

^a BOYS TOWN NATIONAL RESEARCH HOSPITAL   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF ANTWERP   (Belgium)

^e GALLAUDET UNIVERSITY   (United States)

Author keywords

Branchio oto renal syndrome; EYA1; Genetic heterogeneity; Mutation analysis

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR EYA1; UNCLASSIFIED DRUG; EYA1 PROTEIN, HUMAN; NUCLEAR PROTEIN; PROTEIN TYROSINE PHOSPHATASE; SIGNAL PEPTIDE;

BRANCHIAL ARCH; BRANCHIOOTORENAL SYNDROME; CLINICAL FEATURE; CORRELATION ANALYSIS; DISEASE SEVERITY; EYA1 GENE; FAMILY; FISTULA; GENE; GENE MUTATION; GENETIC HETEROGENEITY; HEARING LOSS; HUMAN; KIDNEY AGENESIS; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; REVIEW; UNITED STATES; ARTICLE; GENETIC CODE; GENETIC VARIABILITY; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PHENOTYPIC VARIATION; SINGLE NUCLEOTIDE POLYMORPHISM; AMINO ACID SEQUENCE; CASE CONTROL STUDY; DOMINANT GENE; EXON; FEMALE; FRAMESHIFT MUTATION; GENETICS; MALE; MOLECULAR GENETICS; MUTATION; RNA SPLICING; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; BRANCHIO-OTO-RENAL SYNDROME; CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FRAMESHIFT MUTATION; GENES, DOMINANT; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; NUCLEAR PROTEINS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN TYROSINE PHOSPHATASES; RNA SPLICING; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 42049094684     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20691     Document Type: Review

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