Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

European Journal of Human Genetics

Volumn 13, Issue 8, 2005, Pages 935-946

  Bongers, Ernie M H F ^a   Huysmans, Frans T ^a   Levtchenko, Elena ^a   de Rooy, Jacky W ^a   Blickman, Johan G ^a   Admiraal, Ronald J C ^a   Huygen, Patrick L M ^a   Cruysberg, Johannes R M ^a   Toolens, Pauline A M P ^a   Prins, Judith B ^a   Krabbe, Paul F M ^a   Borm, George F ^b   Schoots, Jeroen ^a   van Bokhoven, Hans ^a   van Remortele, Angela M F ^a   Hoefsloot, Lies H ^a   van Kampen, Albert ^a   Knoers, Nine V A M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

Author keywords

Genotype phenotype; LMX1B; Nail patella syndrome

Indexed keywords

HOMEODOMAIN PROTEIN; TRANSCRIPTION FACTOR;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; FAMILY HISTORY; FEMALE; FREQUENCY ANALYSIS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GLAUCOMA; HETEROZYGOSITY; HUMAN; INFANT; KIDNEY DISEASE; MAJOR CLINICAL STUDY; MALE; MICROALBUMINURIA; MUTATIONAL ANALYSIS; NAIL PATELLA SYNDROME; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEINURIA; QUANTITATIVE ANALYSIS; RISK ASSESSMENT; RISK FACTOR; SEX DIFFERENCE; URINALYSIS;

ADOLESCENT; ADULT; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENOTYPE; HOMEODOMAIN PROTEINS; HUMANS; KIDNEY DISEASES; LINKAGE (GENETICS); MALE; MIDDLE AGED; MUTATION; NAIL-PATELLA SYNDROME; PEDIGREE; PHENOTYPE; TRANSCRIPTION FACTORS;

EID: 23644447910     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201446     Document Type: Article

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