Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

Kidney International

Volumn 85, Issue 6, 2014, Pages 1429-1433

  Hwang, Daw Yang ^a,b   Dworschak, Gabriel C ^a,c   Kohl, Stefan ^a   Saisawat, Pawaree ^d   Vivante, Asaf ^a   Hilger, Alina C ^c   Reutter, Heiko M ^c   Soliman, Neveen A ^e,f   Bogdanovic, Radovan ^g   Kehinde, Elijah O ^h   Tasic, Velibor ⁱ   Hildebrandt, Friedhelm ^a,j  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b KAOHSIUNG MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^c UNIVERSITY OF BONN   (Germany)

^d UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^e CAIRO UNIVERSITY   (Egypt)

^f Egyptian Group for Orphan Renal Diseases EGORD   (Egypt)

^g UNIVERSITY OF BELGRADE   (Serbia)

^h KUWAIT UNIVERSITY   (Kuwait)

ⁱ UNIVERSITY CHILDREN S HOSPITAL   (Macedonia)

^j HOWARD HUGHES MEDICAL INSTITUTE   (United States)

more..

Author keywords

genetic renal disease; renal agenesis; renal development

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CDC5L GENE; CHD1L GENE; CLINICAL FEATURE; COHORT ANALYSIS; CONGENITAL ANOMALY OF THE KIDNEY AND URINARY TRACT; CONGENITAL DISORDER; CONTROLLED STUDY; DOMINANT GENE; EXON; EYA1 GENE; FEMALE; GATA3 GENE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENE TARGETING; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOSITY; HNF1B GENE; HUMAN; HUMAN CELL; KIDNEY AGENESIS; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PAX2 GENE; PHENOTYPE; PRIORITY JOURNAL; RENAL HYPODYSPLASIA; RET GENE; ROBO2 GENE; SALL1 GENE; SEQUENCE ANALYSIS; SIX2 GENE; SIX5 GENE; VESICOURETERAL REFLUX; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION; GENETICS; HEREDITY; HETEROZYGOTE; MUTATION; PEDIGREE; PREDICTIVE VALUE; PROCEDURES; RISK FACTOR; UROGENITAL TRACT MALFORMATION;

DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEREDITY; HETEROZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; PREDICTIVE VALUE OF TESTS; RISK FACTORS; UROGENITAL ABNORMALITIES; VESICO-URETERAL REFLUX;

EID: 84901954111     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/ki.2013.508     Document Type: Article

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