Paracellin-1 gene mutation with multiple congenital abnormalities

Pediatric Nephrology

Volumn 21, Issue 11, 2006, Pages 1776-1778

  Türkmen, Mehmet ^a   Kasap, Belde ^a   Soylu, Alper ^a   Böber, Ece ^a   Konrad, Martin ^b   Kavukçu, Salih ^a  

^a DOKUZ EYLUL UNIVERSITY   (Turkey)

^b UNIVERSITY OF BERN   (Switzerland)

Author keywords

Claudin 16; Hypercalciuria; Hypomagnesemia; Multiple congenital abnormalities; Nephrocalcinosis; Paracellin 1

Indexed keywords

CLAUDIN; CLAUDIN 16; DIGOXIN; HYDROCHLOROTHIAZIDE; MAGNESIUM; MAGNESIUM CITRATE; PARACELLIN 1; SPIRONOLACTONE; UNCLASSIFIED DRUG;

AORTA COARCTATION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CONGENITAL HEART MALFORMATION; EARLY DIAGNOSIS; FACE MALFORMATION; FAMILIAL HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HOMOZYGOSITY; HORSESHOE KIDNEY; HUMAN; HYPERCALCIURIA; HYPERTRICHOSIS; HYPOMAGNESEMIA; INFANT; KIDNEY CALCIFICATION; KIDNEY FAILURE; KIDNEY TUBULE DISORDER; MALE; MULTIPLE MALFORMATION SYNDROME; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; TOOTH MALFORMATION; UMBILICAL HERNIA;

ABNORMALITIES; ABNORMALITIES, MULTIPLE; CONGENITAL ABNORMALITIES; GITELMAN SYNDROME; HOMOZYGOTE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MUTATION; NEPHROCALCINOSIS; RENAL INSUFFICIENCY;

EID: 33748690952     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-006-0247-7     Document Type: Article

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