Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome

American Journal of Medical Genetics, Part A

Volumn 143, Issue 4, 2007, Pages 311-319

  Wühl, Elke ^a   Kogan, Jillene ^b   Zurowska, Aleksandra ^c   Matejas, Verena ^d   Vandevoorde, Rene G ^b   Aigner, Thomas ^e   Wendler, Olaf ^d   Lesniewska, Iga ^c   Bouvier, Raymonde ^f   Reis, André ^d   Weis, Joachim ^g   Cochat, Pierre ^h   Zenker, Martin ^d,i  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^c MEDICAL UNIVERSITY OF GDANSK   (Poland)

^d UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^e UNIVERSITY OF LEIPZIG   (Germany)

^f UNIVERSITÉ LYON 1   (France)

^g UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^h University Hospital   (France)

ⁱ UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

Autosomal recessive; Congenital nephrotic syndrome; Genotype phenotype correlations; Microcoria; Neuromuscular disease; Pierson syndrome; Psychomotor retardation

Indexed keywords

LAMININ GAMMA1;

ALLELE; ARTICLE; BLINDNESS; CASE REPORT; CLINICAL FEATURE; CONGENITAL NEPHROTIC SYNDROME; CONTROLLED STUDY; FEMALE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LAMB2 GENE; MUSCLE DENERVATION; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NERVE CELL DIFFERENTIATION; PIERSON SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RENAL REPLACEMENT THERAPY;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; BLINDNESS; CHILD, PRESCHOOL; EYE ABNORMALITIES; FEMALE; HUMANS; INFANT; LAMININ; MOLECULAR SEQUENCE DATA; MUSCLE HYPOTONIA; MUSCLE, SKELETAL; MUTATION; NEPHROTIC SYNDROME; PSYCHOMOTOR DISORDERS; SYNDROME;

MURINAE; MUS;

EID: 33846837436     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31564     Document Type: Article

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