A Novel Whole Exon Deletion in WWOX Gene Causes Early Epilepsy, Intellectual Disability and Optic Atrophy

Journal of Molecular Neuroscience

Volumn 56, Issue 1, 2015, Pages 17-23

  Ben Salem, Salma ^a   Al Shamsi, Aisha M ^b   John, Anne ^a   Ali, Bassam R ^a   Al Gazali, Lihadh ^a  

^a UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^b TAWAM HOSPITAL   (United Arab Emirates)

Author keywords

ID; Microcephaly; Microdeletion; Whole chromosomal microarray; WWOX

Indexed keywords

OXIDOREDUCTASE; TUMOR SUPPRESSOR PROTEIN; WWOX PROTEIN, HUMAN;

CASE REPORT; EPILEPSY; EXON; GENE DELETION; GENETICS; GERMLINE MUTATION; HOMOZYGOTE; HUMAN; INFANT; INTELLECTUAL DISABILITY; OPTIC ATROPHY; SYNDROME;

EPILEPSY; EXONS; GENE DELETION; GERM-LINE MUTATION; HOMOZYGOTE; HUMANS; INFANT; INTELLECTUAL DISABILITY; OPTIC ATROPHY; OXIDOREDUCTASES; SYNDROME; TUMOR SUPPRESSOR PROTEINS;

EID: 84938842053     PISSN: 08958696     EISSN: 15591166     Source Type: Journal    
DOI: 10.1007/s12031-014-0463-8     Document Type: Article

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