De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

American Journal of Human Genetics

Volumn 99, Issue 3, 2016, Pages 720-727

  Tokita, Mari J ^a,b   Braxton, Alicia A ^a,b   Shao, Yunru ^a,c   Lewis, Andrea M ^a,c   Vincent, Marie ^d   Küry, Sébastien ^d   Besnard, Thomas ^d   Isidor, Bertrand ^d,e   Latypova, Xénia ^d   Bézieau, Stéphane ^d   Liu, Pengfei ^a,b   Motter, Connie S ^f   Melver, Catherine Ward ^f   Robin, Nathaniel H ^g   Infante, Elena M ^h   McGuire, Marianne ^b,h   El Gharbawy, Areeg ^h   Littlejohn, Rebecca O ⁱ   McLean, Scott D ⁱ   Bi, Weimin ^a,b   Bacino, Carlos A ^a,c   Lalani, Seema R ^a,c   Scott, Daryl A ^a,c   Eng, Christine M ^a,b,c   Yang, Yaping ^a,b   Schaaf, Christian P ^a,c   Walkiewicz, Magdalena A ^a,b   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b BAYLOR GENETICS   (United States)

^c TEXAS CHILDREN S HOSPITAL   (United States)

^d NANTES UNIVERSITY HOSPITAL   (France)

^e Universite de Nantes   (France)

^f AKRON CHILDREN'S HOSPITAL   (United States)

^g UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^h UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

ⁱ Foundation Surgical Hospital of San Antonio   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

RNA; DNA BINDING PROTEIN; MINOR HISTOCOMPATIBILITY ANTIGEN; SON PROTEIN, HUMAN;

ARTICLE; AUTISM; BRAIN MALFORMATION; CLINICAL FEATURE; CONGENITAL MALFORMATION; DEEP VEIN THROMBOSIS; DEVELOPMENTAL DELAY; DISEASE ASSOCIATION; EPILEPSY; FAILURE TO THRIVE; FEEDING DIFFICULTY; FETUS DISTRESS; FRONTAL BOSSING; GROWTH DISORDER; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INTELLECTUAL IMPAIRMENT; INTRAUTERINE GROWTH RETARDATION; JOINT LAXITY; LUNG AGENESIS; NUCLEOTIDE SEQUENCE; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; PRIORITY JOURNAL; RNA PROCESSING; SKELETON MALFORMATION; SOLITARY KIDNEY; TRANSIENT ISCHEMIC ATTACK; VISUAL IMPAIRMENT; WHOLE EXOME SEQUENCING; ABNORMALITIES; ADOLESCENT; BRAIN; CHEMISTRY; CHILD; CONGENITAL DISORDER; DEVELOPMENTAL DISORDER; EXOME; FEMALE; GENE DELETION; GENETICS; MALE; PEDIGREE; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; BRAIN; CHILD; CHILD, PRESCHOOL; CONGENITAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; DNA-BINDING PROTEINS; EXOME; FAILURE TO THRIVE; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE; MINOR HISTOCOMPATIBILITY ANTIGENS; PEDIGREE; SEQUENCE DELETION; YOUNG ADULT;

EID: 84996956263     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.06.035     Document Type: Article

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