Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis

American Journal of Medical Genetics, Part A

Volumn 164, Issue 6, 2014, Pages 1537-1544

  Masurel Paulet, Alice ^a   Drumare, Isabelle ^b   Holder, Muriel ^b   Cuisset, Jean Marie ^b   Vallée, Louis ^b   Defoort, Sabine ^b   Bourgois, Béatrice ^c   Pernes, Philippe ^d   Cuvellier, Jean Christophe ^b   Huet, Frédéric ^a   Chehadeh, Salima El ^a   Thevenon, Julien ^a   Callier, Patrick ^e,f   Thauvin, Christel ^a,f   Faivre, Laurence ^a,f   Andrieux, Joris ^b  

^a Medical University of Dijon   (France)

^b LILLE UNIVERSITY HOSPITAL   (France)

^c Service de Pédiatrie   (France)

^d Centre de soins Saint Exupery   (France)

^e DIJON UNIVERSITY HOSPITAL   (France)

^f UNIVERSITÉ DE BOURGOGNE   (France)

Author keywords

Electroretinogram; Homozygous 15q13.3 deletion; TRPM1

Indexed keywords

TRANSIENT RECEPTOR POTENTIAL CHANNEL M1; BUNGAROTOXIN RECEPTOR; CHRNA7 PROTEIN, HUMAN; TRANSIENT RECEPTOR POTENTIAL CHANNEL M; TRPM1 PROTEIN, HUMAN;

15Q13.3 MICRODELETION; A WAVE; AREFLEXIA; ARTICLE; B WAVE; CASE REPORT; CHILD; CHOREOATHETOSIS; CHROMOSOME 15Q; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL BLINDNESS; DIFFERENTIAL DIAGNOSIS; DYSTONIA; ELECTRORETINOGRAPHY; EVOKED VISUAL RESPONSE; EYE DISEASE; EYE TRACKING; FRANCE; GENE DELETION; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOTE; HUMAN; INFANT; LANGUAGE DISABILITY; LIPOFUSCINOSIS; MALE; MICROCEPHALY; MUSCLE HYPOTONIA; OPTIC NERVE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RETINA DYSTROPHY; SCHOOL CHILD; SEIZURE; TRPM1 GENE; BLINDNESS; CHROMOSOME 15; CHROMOSOME DISORDER; EYE; EYE MALFORMATION; FEMALE; GENETIC ASSOCIATION; GENETICS; INTELLECTUAL IMPAIRMENT; MYOPIA; NEURONAL CEROID LIPOFUSCINOSIS; NIGHT BLINDNESS; PATHOLOGY; X CHROMOSOME LINKED DISORDER;

ALPHA7 NICOTINIC ACETYLCHOLINE RECEPTOR; BLINDNESS; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 15; ELECTRORETINOGRAPHY; EYE; EYE ABNORMALITIES; EYE DISEASES, HEREDITARY; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, X-LINKED; HUMANS; INTELLECTUAL DISABILITY; MALE; MYOPIA; NEURONAL CEROID-LIPOFUSCINOSES; NIGHT BLINDNESS; OPTIC NERVE; RETINAL DYSTROPHIES; SEIZURES; TRPM CATION CHANNELS;

EID: 84899899608     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36471     Document Type: Article

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