Confirmation of RAX gene involvement in human anophthalmia

Clinical Genetics

Volumn 74, Issue 4, 2008, Pages 392-395

  Lequeux, L ^a,b   Rio, M ^c   Vigouroux, A ^a,b   Titeux, M ^a   Etchevers, H ^a   Malecaze, F ^a,b,d   Chassaing, N ^a,b,d   Calvas, Patrick ^a,b,d  

^a INSERM   (France)

^b CHU PURPAN   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d UNIVERSITÉ PAUL SABATIER   (France)

Author keywords

Anophthalmia; Microphthalmia; OAR transactivation domain; RAX

Indexed keywords

HOMEODOMAIN PROTEIN; TRANSCRIPTION FACTOR RAX; UNCLASSIFIED DRUG;

ANOPHTHALMIA; ARTICLE; CASE REPORT; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE FUNCTION; GROWTH DISORDER; HETEROZYGOSITY; HUMAN; MICROPHTHALMIA; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE HYPOPLASIA; PALPEBRAL FISSURE ANOMALY; PRESCHOOL CHILD; PRIORITY JOURNAL; RISK FACTOR; SEQUENCE ANALYSIS; STOP CODON;

ANOPHTHALMOS; CHILD, PRESCHOOL; CORNEA; EYE PROTEINS; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; MOLECULAR SEQUENCE DATA; ORBIT; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS;

EID: 52449090962     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01078.x     Document Type: Article

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