Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation

American Journal of Medical Genetics, Part A

Volumn 143, Issue 9, 2007, Pages 939-944

  Zaki, Maha ^a,e   Shehab, Marwa ^a   Abd El Aleem, Alice ^a   Abdel Salam, Ghada ^a   Koeller, Hajira B ^b   Ilkin, Yesim ^c   Ross, M Elizabeth ^b   Dobyns, William B ^c   Gleeson, Joseph G ^d,e  

^a NATIONAL RESEARCH CENTRE   (Egypt)

^b WEILL CORNELL MEDICAL COLLEGE   (United States)

^c UNIVERSITY OF CHICAGO   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Balanced translocation; Consanguinity; Homozygous; Lissencephaly; Reelin

Indexed keywords

AGYRIA; ARTICLE; AUTOSOME; BRAIN DEVELOPMENT; CASE REPORT; CEREBELLUM HYPOPLASIA; CHILD; CHROMOSOME 7Q; CHROMOSOME ANALYSIS; CONSANGUINEOUS MARRIAGE; DISEASE TRANSMISSION; EPILEPSY; FAMILY; FEMALE; GENE MUTATION; GENE TRANSLOCATION; HETEROZYGOSITY; HETEROZYGOTE DETECTION; HOMOZYGOSITY; HUMAN; KARYOTYPE; MALE; MENTAL DEFICIENCY; PARENT; PRIORITY JOURNAL; PROTEIN ANALYSIS; RECIPROCAL CHROMOSOME TRANSLOCATION; SPONTANEOUS ABORTION;

ABNORMALITIES, MULTIPLE; BRAIN; BRAIN DISEASES; CELL ADHESION MOLECULES, NEURONAL; CHILD, PRESCHOOL; CHROMOSOME BANDING; EPILEPSY; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; MALE; MENTAL RETARDATION; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; RECEPTOR PROTEIN-TYROSINE KINASES; SERINE ENDOPEPTIDASES; TRANSLOCATION, GENETIC;

EID: 34247892266     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31667     Document Type: Article

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