Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing

American Journal of Medical Genetics, Part A

Volumn 167, Issue 5, 2015, Pages 1026-1032

  Zarate, Yuri A ^a   Perry, Hazel ^b   Ben Omran, Tawfeg ^c   Sellars, Elizabeth A ^a   Stein, Quinn ^d   Almureikhi, Mariam ^c   Simmons, Kirk ^e   Klein, Ophir ^b   Fish, Jennifer ^b   Feingold, Murray ^f   Douglas, Jessica ^f   Kruer, Michael C ^d   Si, Yue ^g   Mao, Rong ^g   Mcknight, Dianalee ^h   Gibellini, Federica ^h   Retterer, Kyle ^h   Slavotinek, Anne ⁱ  

^a UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c HAMAD MEDICAL CORPORATION   (Qatar)

^d Physical Therapy Sanford Children's Hospital   (United States)

^e UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^f BOSTON CHILDREN S HOSPITAL   (United States)

^g ARUP LABORATORIES   (United States)

^h GENEDX   (United States)

ⁱ UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

2q33.1 deletion; Cleft palate; SATB2; Whole exome sequencing

Indexed keywords

ADULT; ARTICLE; CHILD; CLEFT PALATE; CLINICAL ARTICLE; DISEASE SEVERITY; EXOME; FACE DYSMORPHIA; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE SEQUENCE; GENETIC DISORDER; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; NONSENSE MUTATION; OSTEOPENIA; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SATB2 ASSOCIATED SYNDROME; SATB2 GENE; SEQUENCE ANALYSIS; SPEECH DISORDER; TOOTH MALFORMATION; CHROMOSOME 2; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL LANGUAGE DISORDER; FEMALE; GENETICS; HIGH THROUGHPUT SEQUENCING; PATHOPHYSIOLOGY; STOP CODON;

MATRIX ATTACHMENT REGION BINDING PROTEIN; SATB2 PROTEIN, HUMAN; STOP CODON; TRANSCRIPTION FACTOR;

ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 2; CLEFT PALATE; CODON, NONSENSE; CRANIOFACIAL ABNORMALITIES; EXOME; FEMALE; FRAMESHIFT MUTATION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTELLECTUAL DISABILITY; LANGUAGE DEVELOPMENT DISORDERS; MALE; MATRIX ATTACHMENT REGION BINDING PROTEINS; TRANSCRIPTION FACTORS;

EID: 84927776892     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36849     Document Type: Article

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