SATB2-associated syndrome presenting with Rett-like phenotypes

Clinical Genetics

Volumn 89, Issue 6, 2016, Pages 728-732

  Lee, J S ^a   Yoo, Y ^b   Lim, B C ^c   Kim, K J ^c   Choi, Murim ^b   Chae, Jong Hee ^c  

^a Gachon University College of Medicine   (South Korea)

^b Seoul National University College of Medicine   (South Korea)

^c Seoul National University Children's Hospital   (South Korea)

Author keywords

Intellectual disability; Psychomotor retardation; Rett like; SATB2; SATB2 associated syndrome; Whole exome sequencing

Indexed keywords

ARGININE; GLUTAMIC ACID; GLUTAMINE; MATRIX ATTACHMENT REGION BINDING PROTEIN; SATB2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ARTICLE; CASE REPORT; CHILD; CLEFT PALATE; DISEASE SEVERITY; EXOME; FACE DYSMORPHIA; FEMALE; GENE; GENE SEQUENCE; GENETIC VARIATION; HIGH ARCHED PALATE; HUMAN; INTELLECTUAL IMPAIRMENT; MISSENSE MUTATION; MULTIPLE MALFORMATION SYNDROME; MUSCLE HYPOTONIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RETT SYNDROME; SATB2 GENE; SPEECH DELAY; TOOTH DISEASE; AMINO ACID SEQUENCE; DEVELOPMENTAL DISORDER; DNA SEQUENCE; GENETIC PREDISPOSITION; GENETICS; INFANT; NUCLEOTIDE SEQUENCE; PATHOLOGY; PROCEDURES; SEQUENCE HOMOLOGY; SYNDROME;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD, PRESCHOOL; CLEFT PALATE; DEVELOPMENTAL DISABILITIES; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MATRIX ATTACHMENT REGION BINDING PROTEINS; MUTATION, MISSENSE; PHENOTYPE; RETT SYNDROME; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID; SYNDROME; TRANSCRIPTION FACTORS;

EID: 84955245521     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12698     Document Type: Article

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