372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment

European Journal of Medical Genetics

Volumn 55, Issue 3, 2012, Pages 216-221

  Marseglia, Giuseppina ^a   Scordo, Maria Rosaria ^b   Pescucci, Chiara ^a   Nannetti, Genni ^a   Biagini, Elisabetta ^b   Scandurra, Valeria ^b   Gerundino, Francesca ^a   Magi, Alberto ^b   Benelli, Matteo ^b   Torricelli, Francesca ^a  

^a CAREGGI UNIVERSITY HOSPITAL   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

Author keywords

18q12.3 microdeletion; Expressive speech impairment; SETBP1 gene

Indexed keywords

PROTEIN; SET BINDING PROTEIN 1; UNCLASSIFIED DRUG; CARRIER PROTEIN; NUCLEAR PROTEIN; SETBP1 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME 18Q; DISEASE SEVERITY; EXPRESSIVE SPEECH IMPAIRMENT; FACE DYSMORPHIA; FACIAL EXPRESSION; GENETIC ANALYSIS; GESTURE; HAPLOINSUFFICIENCY; HUMAN; HUMAN CELL; INTERSTITIAL CHROMOSOME DELETION; LANGUAGE ABILITY; MALE; MENTAL DEFICIENCY; PHENOTYPE; SPEECH DISORDER; CHILD; CHROMOSOME 18; CHROMOSOME DELETION; GENETICS; INTELLECTUAL IMPAIRMENT; LANGUAGE DISABILITY; PRESCHOOL CHILD;

ADOLESCENT; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 18; HAPLOINSUFFICIENCY; HUMANS; INTELLECTUAL DISABILITY; LANGUAGE DEVELOPMENT DISORDERS; MALE; NUCLEAR PROTEINS;

EID: 84858863054     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.01.005     Document Type: Article

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