Nephronophthisis type 1 deletion syndrome with neurological symptoms: Prevalence and significance of the association

Kidney International

Volumn 70, Issue 7, 2006, Pages 1342-1347

  Caridi, G ^a   Dagnino, M ^a   Rossi, A ^a   Valente, E M ^b   Bertini, E ^c   Fazzi, E ^d   Emma, F ^c   Murer, L ^e   Verrina, E ^a   Ghiggeri, G M ^a  

^a G GASLINI INSTITUTE   (Italy)

^b Istituto Mendel   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d UNIVERSITY OF PAVIA   (Italy)

^e UNIVERSITY OF PADOVA   (Italy)

Author keywords

Genetic renal disease; Kidney disease; Pediatric nephrology

Indexed keywords

GENE PRODUCT; NEPHROCYSTIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; ATAXIA; BRAIN MALFORMATION; CEREBELLUM; CLINICAL ARTICLE; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DISEASE SEVERITY; FAMILIAL DISEASE; FEMALE; GENE; GENE DELETION; HEARING LOSS; HOMOZYGOSITY; HUMAN; INCIDENCE; JOUBERT SYNDROME; KIDNEY FAILURE; LEBER CONGENITAL AMAUROSIS; LIVER FIBROSIS; MALE; MOLAR TOOTH SIGN; MUSCLE HYPOTONIA; NEPHRONOPHTHISIS; NEPHRONOPHTHISIS TYPE 1 DELETION SYNDROME; NEUROLOGIC DISEASE; NEURORADIOLOGY; NPHP1 GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; RETINOPATHY; SCHOOL CHILD; SYMPTOMATOLOGY; TREMOR;

ADOLESCENT; ADULT; AGE FACTORS; CEREBELLUM; CHILD; FEMALE; GENE DELETION; HOMOZYGOTE; HUMANS; INCIDENCE; KIDNEY DISEASES; KIDNEY FAILURE, CHRONIC; MAGNETIC RESONANCE IMAGING; MALE; PHENOTYPE; PREVALENCE; RETINITIS PIGMENTOSA; SYNDROME; TIME FACTORS;

EID: 33748937382     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/sj.ki.5001768     Document Type: Article

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