UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients

American Journal of Medical Genetics, Part A

Volumn 152 A, Issue 12, 2010, Pages 3084-3090

  De Leeuw, Nicole ^a   Bulk, Saskia ^b   Green, Andrew ^c,d   Jaeckle Santos, Lane ^e   Baker, Linda A ^e   Zinn, Andrew R ^e   Kleefstra, Tjitske ^a   Van Der Smagt, Jasper J ^b   Vianne Morgante, Angela Maria ^f   De Vries, Bert B A ^a   Van Bokhoven, Hans ^a,g   De Brouwer, Arjan P M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^d UNIVERSITY COLLEGE DUBLIN   (Ireland)

^e UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^f UNIVERSITY OF SÃO PAULO   (Brazil)

^g RADBOUD UNIVERSITY   (Netherlands)

Author keywords

Deficiency; Deletion; Intellectual disability; Syndrome; UBE2A

Indexed keywords

UBIQUITIN CONJUGATING ENZYME E2; UBIQUITIN CONJUGATING ENZYME E2A; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL SKIN DISEASE; CYCLOPIA; DISEASE SEVERITY; FACE DYSMORPHIA; GENE DELETION; GENE FREQUENCY; HIRSUTISM; HUMAN; HYPERTELORISM; INTELLECTUAL IMPAIRMENT; KARYOTYPE; MALE; NOSE MALFORMATION; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM; SPEECH DISORDER; UROGENITAL TRACT DISEASE;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; HUMANS; INFANT; MALE; MENTAL RETARDATION; PEDIGREE; POINT MUTATION; SEIZURES; SKIN ABNORMALITIES; SPEECH DISORDERS; SYNDROME; UBIQUITIN-CONJUGATING ENZYMES; UROGENITAL ABNORMALITIES;

EID: 78649656031     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33743     Document Type: Article

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