Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia

Nephrology Dialysis Transplantation

Volumn 28, Issue 1, 2013, Pages 227-232

  Schild, Raphael ^a   Knüppel, Tanja ^b   Konrad, Martin ^c   Bergmann, Carsten ^d   Trautmann, Agnes ^b   Kemper, Markus J ^a   Wu, Kongming ^e,f   Yaklichkin, Sergey ^f   Wang, Jing ^f   Pestell, Richard ^f   Müller Wiefel, Dirk E ^a   Schaefer, Franz ^b   Weber, Stefanie ^g  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^c UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^d Center for Human Genetics   (Germany)

^e HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^f THOMAS JEFFERSON UNIVERSITY   (United States)

^g UNIVERSITY OF DUISBURG ESSEN   (Germany)

Author keywords

kidney dysplasia; molecular genetics; oligogenic inheritance

Indexed keywords

ARGININE; BONE MORPHOGENETIC PROTEIN 4; CYSTEINE; TRANSFORMING GROWTH FACTOR BETA;

ADULT; AMINO ACID SUBSTITUTION; ANEMIA; ARTICLE; BMP4 GENE; CASE REPORT; CELL STRAIN HEK293; CHILD; CONTROLLED STUDY; CYTOMEGALOVIRUS INFECTION; DACH1 GENE; DETERIORATION; DEVELOPMENTAL GENE; DYSTROPHY; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOTE; HUMAN; HUMAN CELL; KIDNEY CYST; KIDNEY DYSPLASIA; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT INFECTION; URINARY TRACT INFECTION;

ADULT; BONE MORPHOGENETIC PROTEIN 4; EYE PROTEINS; GENETIC ASSOCIATION STUDIES; HOMOZYGOTE; HUMANS; KIDNEY; MALE; MUTATION, MISSENSE; POLYCYSTIC KIDNEY, AUTOSOMAL RECESSIVE; TRANSCRIPTION FACTORS; UROGENITAL ABNORMALITIES; YOUNG ADULT;

EID: 84872227699     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfs539     Document Type: Article

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