Contiguous deletion of the NDP, MAOA, MAOB and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy

American Journal of Medical Genetics, Part A

Volumn 143, Issue 9, 2007, Pages 916-920

  Rodriguez Revenga, L ^a,b   Madrigal, I ^a,b   Alkhalidi, L S ^c   Armengol, L ^d   Gonzalez E ^d   Badenas, C ^a,b   Estivill, X ^a,e   Mila M ^a,b  

^a HOSPITAL CLÍNIC   (Spain)

^b INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

^c RASHID HOSPITAL   (United Arab Emirates)

^d Barcelona Biomedical Research Park   (Spain)

^e UNIVERSITAT POMPEU FABRA   (Spain)

Author keywords

Contiguous gene syndrome; EFHC2 gene; MAOA and MAOB genes; Microarray comparative genomic hybridization; NDP gene; Norrie disease

Indexed keywords

AMINE OXIDASE (FLAVIN CONTAINING) ISOENZYME A; AMINE OXIDASE (FLAVIN CONTAINING) ISOENZYME B; NUCLEOSIDE DIPHOSPHATE KINASE A;

ARTICLE; ARTIFICIAL CHROMOSOME; CASE REPORT; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MICROARRAY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HUMAN; MALE; MOLECULAR CLONING; MYOCLONUS EPILEPSY; NORRIE DISEASE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; X CHROMOSOME; X CHROMOSOME LINKED DISORDER;

BLINDNESS; CALCIUM-BINDING PROTEINS; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; EPILEPSIES, MYOCLONIC; EYE PROTEINS; HUMANS; MALE; MONOAMINE OXIDASE; NERVE TISSUE PROTEINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PSYCHOMOTOR DISORDERS;

BACTERIA (MICROORGANISMS);

EID: 34247869699     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31521     Document Type: Article

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