Further delineation of the SATB2 phenotype

European Journal of Human Genetics

Volumn 22, Issue 8, 2014, Pages 1034-1039

  Döcker, Dennis ^a   Schubach, Max ^b   Menzel, Moritz ^b   Munz, Marita ^c   Spaich, Christiane ^a   Biskup, Saskia ^a,b,c   Bartholdi, Deborah ^a  

^a OLGAHOSPITAL   (Germany)

^b CEGAT GMBH   (Germany)

^c UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

cleft palate; exome sequencing; intellectual disability (ID); SATB2; speech development

Indexed keywords

AT RICH SEQUENCE BINDING PROTEIN 2; BINDING PROTEIN; UNCLASSIFIED DRUG; MATRIX ATTACHMENT REGION BINDING PROTEIN; SATB2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ANGER; APNEA ATTACK; ARTICLE; CASE REPORT; CHILD; CLEFT PALATE; COGNITIVE DEVELOPMENT; EXOME; FEMALE; FRAGILE X SYNDROME; GENE; GENE SEQUENCE; GENETIC DISORDER; GENETIC SCREENING; GROWTH RETARDATION; HAPPY PUPPET SYNDROME; HUMAN; INTELLECTUAL IMPAIRMENT; KARYOTYPING; MICROARRAY ANALYSIS; MICROGNATHIA; MUSCLE HYPOTONIA; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHYSICAL EXAMINATION; PIERRE ROBIN SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; RETT SYNDROME; SATB2 ASSOCIATED SYNDROME; SATB2 GENE; SPEECH DELAY; CHROMOSOME 2; CHROMOSOME DELETION; DNA SEQUENCE; FACIES; GENE LOCUS; GENE ORDER; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; MUTATION; CRANIOFACIAL DEVELOPMENT; DEVELOPMENTAL DISORDER; GENE IDENTIFICATION; GENETIC ASSOCIATION; HUMAN CELL; PHENOTYPIC VARIATION; SEQUENCE ANALYSIS; SPECIAL AT RICH SEQUENCE BINDING PROTEIN 2 GENE;

ANIMALIA; VERTEBRATA;

CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; EXOME; FACIES; FEMALE; GENE ORDER; GENETIC ASSOCIATION STUDIES; GENETIC LOCI; GENOTYPE; HUMANS; MATRIX ATTACHMENT REGION BINDING PROTEINS; MUTATION; PHENOTYPE; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS;

EID: 84904703433     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.280     Document Type: Article

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