Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease

Kidney International

Volumn 77, Issue 4, 2010, Pages 350-358

  Denamur, Erick ^a,f   Delezoide, Anne Lise ^b   Alberti, Corinne ^b   Bourillon, Agnè ^c   Gubler, Marie Claire ^d,f   Bouvier, Raymonde ^e   Pascaud, Olivier ^a   Elion, Jacques ^a   Grandchamp, Bernard ^c   Michel Calemard, Laurence ^e   Missy, Pascale ^b   Zaccaria, Isabelle ^b   Le Nagard, Hervé ^b   Gerard, Bénédicte ^a,c,f   Loirat, Chantal ^b,f  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c BICHAT HOSPITAL   (France)

^d INSERM   (France)

^e UNIVERSITÉ LYON 1   (France)

^f Centre de Référence MARHEA   (France)

Author keywords

Autosomal recessive polycystic kidney disease; Congenital hepatic fibrosis; Foetopathology; PKHD1; Prenatal diagnosis

Indexed keywords

FIBROCYSTIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; DISEASE SEVERITY; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GESTATIONAL AGE; GLOMERULOPATHY; HISTOPATHOLOGY; HUMAN; KIDNEY COLLECTING TUBULE; KIDNEY CORTEX; KIDNEY POLYCYSTIC DISEASE; KIDNEY TUBULE; LIVER FIBROSIS; MISSENSE MUTATION; PREGNANCY TERMINATION; PRIORITY JOURNAL;

FETAL DISEASES; GENOTYPE; HUMANS; INFANT, NEWBORN; MUTATION; PHENOTYPE; POLYCYSTIC KIDNEY, AUTOSOMAL RECESSIVE; RECEPTORS, CELL SURFACE;

EID: 75749103271     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/ki.2009.440     Document Type: Article

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