Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome

Clinical Genetics

Volumn 92, Issue 4, 2017, Pages 423-429

  Zarate, Y A ^a   Kalsner, L ^b   Basinger, A ^c   Jones, J R ^d   Li, C ^e   Szybowska, M ^e   Xu, Z L ^f   Vergano, S ^g   Caffrey, A R ^h   Gonzalez, C V ^a   Dubbs, H ⁱ   Zackai, E ⁱ   Millan, F ^j   Telegrafi, A ^j   Baskin, B ^j   Person, R ^j   Fish, J L ^k   Everman, D B ^d  

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

^b Farmington   (United States)

^c Department of Metabolic Genetics   (United States)

^d GREENWOOD GENETIC CENTER   (United States)

^e MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

^f MCMASTER UNIVERSITY   (Canada)

^g CHILDREN S HOSPITAL OF THE KING S DAUGHTERS   (United States)

^h UNIVERSITY OF RHODE ISLAND   (United States)

ⁱ CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^j GENEDX   (United States)

^k University of Massachusetts Lowell   (United States)

more..

Author keywords

cleft palate; SATB2; tibial bowing; whole exome sequencing

Indexed keywords

ADOLESCENT; ARTICLE; BEHAVIOR DISORDER; BONE MALFORMATION; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DELAY; FACE DYSMORPHIA; FEMALE; GENE; GENE MUTATION; GENETIC DISORDER; GENETIC TRAIT; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; NEURORADIOLOGY; PATHOGENICITY; PRACTICE GUIDELINE; PRESCHOOL CHILD; PRIORITY JOURNAL; SATB 2 ASSOCIATED SYNDROME; SATB 2 GENE; SCHOOL CHILD; SPEECH DISORDER; TOOTH MALFORMATION; DEVELOPMENTAL DISORDER; EXOME; FRAMESHIFT MUTATION; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; INFANT; INTELLECTUAL IMPAIRMENT; PATHOPHYSIOLOGY; PHENOTYPE;

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

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; EXOME; FEMALE; FRAMESHIFT MUTATION; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MATRIX ATTACHMENT REGION BINDING PROTEINS; PHENOTYPE; TRANSCRIPTION FACTORS;

EID: 85014619441     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12982     Document Type: Article

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