Clinical and pathological features of a neonate with autosomal recessive polycystic kidney disease caused by a nonsense PKHD1 mutation

World Journal of Pediatrics

Volumn 9, Issue 1, 2013, Pages 76-79

  Zhou, Xi Hui ^a   Hui, Zhi Yan ^a   Li, Yuan ^a  

^a MEDICAL SCHOOL OF XI AN JIAOTONG UNIVERSITY   (China)

Author keywords

infants; pyelonephritis; vesicoureteral reflux

Indexed keywords

CYTOSINE; FIBROCYSTIN; SURFACTANT; THYMINE;

ARTICLE; AUTOPSY; BODY POSTURE; BRADYCARDIA; CASE REPORT; CAUSE OF DEATH; CYANOSIS; DNA SEQUENCE; ENDOTRACHEAL INTUBATION; ENLARGED ABDOMEN; EXON; FETUS ECHOGRAPHY; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOTE; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INFANT; INTERMITTENT POSITIVE PRESSURE VENTILATION; KIDNEY HYPERTROPHY; KIDNEY POLYCYSTIC DISEASE; LIVER BIOPSY; LUNG HYPOPLASIA; MALE; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN DEATH; NONSENSE MUTATION; OLIGOHYDRAMNIOS; OXYGEN SATURATION; PARENT; PNEUMOTHORAX; POLYMERASE CHAIN REACTION; PREMATURITY; RESPIRATORY DISTRESS; RESPIRATORY FAILURE; SINGLE DRUG DOSE; THORAX RADIOGRAPHY;

CODON, NONSENSE; FATAL OUTCOME; HUMANS; INFANT, NEWBORN; MALE; MUTATION; POLYCYSTIC KIDNEY, AUTOSOMAL RECESSIVE; RECEPTORS, CELL SURFACE;

EID: 84873416303     PISSN: 17088569     EISSN: 18670687     Source Type: Journal    
DOI: 10.1007/s12519-013-0407-3     Document Type: Article

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