Vesicourethral reflux-induced renal failure in a patient with ICF syndrome due to a novel DNMT3B mutation

American Journal of Medical Genetics, Part A

Volumn 170, Issue 12, 2016, Pages 3253-3257

  Kutluğ, Seyhan ^a   Ogur, Gönül ^a   Yilmaz, Aysegül ^a   Thijssen, Peter E ^b   Abur, Ummet ^a   Yildiran, Alisan ^a  

^a ONDOKUZ MAYIS UNIVERSITY   (Turkey)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

centromeric instability; DNMT3B; ICF syndrome; primary immunodeficiency syndrome; vesicoureteral reflux

Indexed keywords

COTRIMOXAZOLE; CREATININE; DNA METHYLTRANSFERASE 3B; IMMUNOGLOBULIN; UREA; BIOLOGICAL MARKER; DNA (CYTOSINE 5) METHYLTRANSFERASE;

ARTICLE; CASE REPORT; CENTROMERE; CHILD; CHROMOSOMAL INSTABILITY; CHROMOSOME 1; CHROMOSOME 16; CHROMOSOME 9; CHROMOSOME ANALYSIS; CHRONIC KIDNEY FAILURE; COMORBIDITY; CREATININE BLOOD LEVEL; DNMT3B GENE; FACE MALFORMATION; FEMALE; FLOW CYTOMETRY; GASTROENTERITIS; GENETIC ASSOCIATION; GENETIC PROCEDURES; GROWTH RETARDATION; HUMAN; ICF SYNDROME; IMMUNE DEFICIENCY; IMMUNOGLOBULIN DEFICIENCY; LABORATORY TEST; LOWER RESPIRATORY TRACT INFECTION; METAPHASE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RECURRENT INFECTION; SANGER SEQUENCING; SCHOOL CHILD; SEIZURE; SPEECH DISORDER; UREA BLOOD LEVEL; URETERONEOCYSTOSTOMY; URINARY TRACT INFECTION; VESICOURETERAL REFLUX; WALKING DIFFICULTY; CHROMOSOME ABERRATION; COMPLICATION; DNA MUTATIONAL ANALYSIS; FACIES; GENETIC ASSOCIATION STUDY; GENETICS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; MUTATION; PEDIGREE; PHENOTYPE; RENAL INSUFFICIENCY; SYNDROME; VESICO-URETERAL REFLUX;

BIOMARKERS; CHROMOSOMAL INSTABILITY; CHROMOSOME ABERRATIONS; DNA (CYTOSINE-5-)-METHYLTRANSFERASE; DNA MUTATIONAL ANALYSIS; FACIES; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; IMMUNOGLOBULINS, INTRAVENOUS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; MUTATION; PEDIGREE; PHENOTYPE; PHYSICAL EXAMINATION; RENAL INSUFFICIENCY; SYNDROME; VESICO-URETERAL REFLUX;

EID: 84995745489     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37866     Document Type: Article

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