Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation

Journal of Human Genetics

Volumn 55, Issue 4, 2010, Pages 244-247

  Honda, Shozo ^a   Orii, Koji O ^b   Kobayashi, Junya ^a   Hayashi, Shin ^a   Imamura, Atsushi ^b   Imoto, Issei ^a   Nakagawa, Eiji ^c,d   Goto, Yu Ichi ^c,e   Inazawa, Johji ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b GIFU PREFECTURAL GIFU HOSPITAL   (Japan)

^c National Center of Neurology and Psychiatry   (Japan)

^d Department of Child Neurology ^*  (Japan)

^e NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

Array CGH; BAC; Deletion; UBE2A; X tiling array; XLMR

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME DELETION X; CHROMOSOME XQ; CONTROLLED STUDY; CONVERGENT STRABISMUS; DEVELOPMENTAL DISORDER; GENE; HIRSUTISM; HUMAN; HYPERTELORISM; INFANT; MALE; NONSENSE MUTATION; NOSE MALFORMATION; PRESCHOOL CHILD; SEIZURE; UBE2A GENE; X LINKED MENTAL RETARDATION;

ADULT; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; FAMILY HEALTH; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MENTAL RETARDATION, X-LINKED; PEDIGREE; UBIQUITIN-CONJUGATING ENZYMES;

BACTERIA (MICROORGANISMS);

EID: 77951763766     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.14     Document Type: Article

References (8)

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