Autosomal dominant inheritance of non-syndromic renal hypoplasia and dysplasia: Dramatic variation in clinical severity in a single kindred

Nephrology Dialysis Transplantation

Volumn 22, Issue 1, 2007, Pages 259-263

  Kerecuk, Larissa ^a   Sajoo, Anaar ^b   McGregor, Lesley ^b   Berg, Jonathan ^c   Haq, Mushfequr R ^a   Sebire, Neil J ^d   Bingham, Coralie ^e   Edghill, Emma L ^e   Ellard, Sian ^e   Taylor, Judy ^a   Rigden, Sue ^a   Flinter, Frances A ^b   Woolf, Adrian S ^f  

^a EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^b GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^c UNIVERSITY OF DUNDEE   (United Kingdom)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e PENINSULA MEDICAL SCHOOL   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Dysplasia; Gene; Hypoplasia; Inheritance; Nephrogenesis; Renal failure

Indexed keywords

ALKALI; CYSTEINE; HEPATOCYTE NUCLEAR FACTOR 1BETA; IRON; THREONINE; TRANSCRIPTION FACTOR PAX2; VITAMIN D;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CAUCASIAN; CLINICAL EXAMINATION; DISEASE SEVERITY; EXON; FAMILY STUDY; FEMALE; FETUS ECHOGRAPHY; GASTROESOPHAGEAL REFLUX; GENE AMPLIFICATION; GENE DELETION; GENETIC CODE; GLOMERULUS FILTRATION RATE; HETEROZYGOSITY; HUMAN; INTRON; KIDNEY BIOPSY; KIDNEY DYSFUNCTION; KIDNEY DYSPLASIA; KIDNEY FAILURE; KIDNEY GRAFT REJECTION; KIDNEY HYPOPLASIA; KIDNEY TRANSPLANTATION; KIDNEY TUBULE DISORDER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; OLIGOHYDRAMNIOS; PRIORITY JOURNAL; PROMOTER REGION; PROTEINURIA; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; FAMILY HEALTH; FEMALE; HUMANS; INFANT, NEWBORN; KIDNEY; KIDNEY DISEASES; KIDNEY FAILURE; KIDNEY FAILURE, CHRONIC; MALE; MIDDLE AGED; MUTATION; NEPHRONS; PEDIGREE;

EID: 33845978033     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfl531     Document Type: Article

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