Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations

American Journal of Human Genetics

Volumn 60, Issue 4, 1997, Pages 869-878

  Schimmenti, Lisa A ^a   Cunliffe, Heather E ^b   McNoe, Leslie A ^b   Ward, Teresa A ^b   French, Michelle C ^b   Shim, Heather H ^a   Zhang, Yao Hua ^a   Proesmans, Willem ^c   Leys, Anita ^c   Byerly, Kyna A ^d   Braddock, Stephen R ^d   Masuno, Mitsuno ^e   Imaizumi, Kiyoshi ^e   Devriendt, Koen ^c   Eccles, Michael R ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF OTAGO   (New Zealand)

^c UNIVERSITY OF LEUVEN   (Belgium)

^d University of Missouri   (United States)

^e KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL FEATURE; COLOBOMA; EYE DISEASE; GENE MUTATION; GROWTH RETARDATION; HUMAN; HUMAN CELL; KIDNEY DISEASE; MICROCEPHALY; PHENOTYPE; PRIORITY JOURNAL; SYNDROME CHARGE; UROGENITAL SYSTEM;

ABNORMALITIES, MULTIPLE; ADULT; CHILD; CLONING, MOLECULAR; COLOBOMA; DNA-BINDING PROTEINS; EXONS; FEMALE; HUMANS; KIDNEY; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; OPTIC NERVE; PAX2 TRANSCRIPTION FACTOR; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SYNDROME; TRANSCRIPTION FACTORS; VARIATION (GENETICS);

EID: 16944366271     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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