Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities

American Journal of Medical Genetics, Part A

Volumn 155, Issue 10, 2011, Pages 2601-2604

  Matejas, Verena ^a   Muscheites, Jutta ^b   Wigger, Marianne ^b   Kreutzer, Hans Jürgen ^c   Nizze, Horst ^c   Zenker, Martin ^a,d  

^a UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^b Department of Pediatric Nephrology and Dialysis ^*  (Germany)

^c ROSTOCK UNIVERSITY MEDICAL CENTER   (Germany)

^d UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA; MESSENGER RNA; MYDRIATIC AGENT;

ARTICLE; ASPERGILLOSIS; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CHROMOSOME 3; DISOMY; DNA DETERMINATION; ECHOGRAPHY; EDEMA; FIBROBLAST; FUNGEMIA; GENE; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOALBUMINEMIA; INFANT; KIDNEY BIOPSY; KIDNEY DYSFUNCTION; KIDNEY FAILURE; KIDNEY HYPERTROPHY; LAMB2 GENE; MALE; MICROPHTHALMIA; MIOSIS; NEWBORN; NONSENSE MEDIATED MRNA DECAY; NYSTAGMUS; PATERNAL ISODISOMY; PERITONEAL DIALYSIS; PHENOTYPIC VARIATION; PHYSIOTHERAPY; PIERSON SYNDROME; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEINURIA; RENOGRAPHY; RETINA DETACHMENT; SCLEROSIS; SEPSIS; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPEECH DISORDER; SPEECH THERAPY; UNIPARENTAL DISOMY;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; BIOPSY; CHROMOSOMES, HUMAN, PAIR 3; EYE ABNORMALITIES; FATAL OUTCOME; GERMANY; HAPLOTYPES; HUMANS; KIDNEY; LAMININ; MALE; MOLECULAR SEQUENCE DATA; PHENOTYPE; PUPIL DISORDERS; SEQUENCE ANALYSIS, DNA; UNIPARENTAL DISOMY;

EID: 80053115962     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34214     Document Type: Article

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