Intragenic duplication-A novel causative mechanism for SATB2-associated syndrome

American Journal of Medical Genetics, Part A

Volumn 164, Issue 12, 2014, Pages 3083-3087

  Liedén, Agne ^a,b   Kvarnung, Malin ^a,b   Nilssson, Daniel ^a,b   Sahlin, Ellika ^a,b   Lundberg, Elisabeth Syk ^a,b  

^a KAROLINSKA INSTITUTE   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

2q33.1; Array comparative genomic hybridization; Cleft palate; Intellectual disability; Mate pair sequencing; SATB2; Speech impairment; Teeth abnormality

Indexed keywords

ADULT; ARTICLE; BONE BOWING; CASE REPORT; CLEFT PALATE; CLINICAL EXAMINATION; COMPARATIVE GENOMIC HYBRIDIZATION; EXON; GENE; GENE DELETION; GENE DUPLICATION; GENE SEQUENCE; HEMIPARESIS; HIGH ARCHED PALATE; HUMAN; INTELLECTUAL IMPAIRMENT; INTRAGENIC DUPLICATION; LANGUAGE DISABILITY; MALE; MALOCCLUSION; MOTOR DYSFUNCTION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEUROLOGIC EXAMINATION; OLIGODONTIA; OSTEOPOROSIS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; REFLEX DISORDER; SATB2 GENE; SEQUENCE ANALYSIS; SPASTICITY; SPEECH DISORDER; SPINE RADIOGRAPHY; YOUNG ADULT; GENETICS; MULTIPLE MALFORMATION SYNDROME; SYNDROME;

MATRIX ATTACHMENT REGION BINDING PROTEIN; PRIMER DNA; SATB2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ABNORMALITIES, MULTIPLE; COMPARATIVE GENOMIC HYBRIDIZATION; DNA PRIMERS; GENE DUPLICATION; HUMANS; INTELLECTUAL DISABILITY; MALE; MATRIX ATTACHMENT REGION BINDING PROTEINS; PHENOTYPE; SYNDROME; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 84911165284     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36769     Document Type: Article

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