Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere Syndrome (Axenfeld-Rieger anomaly, hydrocephaly, hearing loss): A 25-year follow up

American Journal of Medical Genetics, Part A

Volumn 143, Issue 11, 2007, Pages 1227-1230

  Lowry, R Brian ^a   Gould, Douglas B ^b,d   Walter, Michael A ^b   Savage, Paul R ^c  

^a ALBERTA CHILDREN'S HOSPITAL   (Canada)

^b UNIVERSITY OF ALBERTA   (Canada)

^c CALGARY HEALTH REGION   (Canada)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Axenfeld Rieger; BARX1; Candidate genes; De Hauwere syndrome; FOXC1; PITX2

Indexed keywords

TRANSCRIPTION FACTOR FOXC1;

ADULT; ARTICLE; AXENFELD RIEGER SYNDROME; BARX1 GENE; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; CONDUCTION DEAFNESS; DE HAUWERE SYNDROME; EYE MALFORMATION; FEMALE; FOLLOW UP; FOXC1 GENE; GENE MUTATION; HEARING LOSS; HIP DISLOCATION; HUMAN; HYDROCEPHALUS; PARAPLEGIA; PERCEPTION DEAFNESS; PITX2 GENE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SHORT STATURE;

ABNORMALITIES, MULTIPLE; ADULT; BODY HEIGHT; FEMALE; FOLLOW-UP STUDIES; FORKHEAD TRANSCRIPTION FACTORS; HEARING LOSS; HOMEODOMAIN PROTEINS; HUMANS; HYDROCEPHALUS; MUTATION; SYNDROME; TRANSCRIPTION FACTORS;

EID: 34249891621     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31732     Document Type: Article

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