TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

American Journal of Human Genetics

Volumn 97, Issue 6, 2015, Pages 922-932

  O'Rawe, Jason A ^a,b   Wu, Yiyang ^a,b   Dörfel, Max J ^a   Rope, Alan F ^c   Au, P Y Billie ^d   Parboosingh, Jillian S ^d   Moon, Sungjin ^e   Kousi, Maria ^e   Kosma, Konstantina ^f,g   Smith, Christopher S ^d   Tzetis, Maria ^f,g   Schuette, Jane L ^h,i   Hufnagel, Robert B ^j,k   Prada, Carlos E ^j,l   Martinez, Francisco ^m   Orellana, Carmen ^m   Crain, Jonathan ^a   Caro Llopis, Alfonso ^m   Oltra, Silvestre ^m   Monfort, Sandra ^m   Jiménez Barrón, Laura T ^a,n   Swensen, Jeffrey ^o   Ellingwood, Sara ^p   Smith, Rosemarie ^q   Fang, Han ^a   Ospina, Sandra ^r   Stegmann, Sander ^s   Den Hollander, Nicolette ^t   Mittelman, David ^u   Highnam, Gareth ^u   Robison, Reid ^v,w   Yang, Edward ^x   Faivre, Laurence ^y,z   Roubertie, Agathe ^aa,ab   Rivière, Jean Baptiste ^y   Monaghan, Kristin G ^ac   Wang, Kai ^ad   Davis, Erica E ^e   Katsanis, Nicholas ^e   Kalscheuer, Vera M ^ae   Wang, Edith H ^af   Metcalfe, Kay ^ag   Kleefstra, Tjitske ^ah   Innes, A Micheil ^d   Kitsiou Tzeli, Sophia ^f   Rosello, Monica ^m   Keegan, Catherine E ^h,i   Lyon, Gholson J ^a,b,v   more..

^a Simons Center for Quantitative Biology   (United States)

^b STONY BROOK UNIVERSITY   (United States)

^c KAISER PERMANENTE   (United States)

^d UNIVERSITY OF CALGARY   (Canada)

^e DUKE UNIVERSITY   (United States)

^f UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^g Children's Hospital   (Greece)

^h UNIVERSITY OF MICHIGAN   (United States)

ⁱ UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^j CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^k NATIONAL EYE INSTITUTE   (United States)

^l FUNDACIÓN CARDIOVASCULAR DE COLOMBIA   (Colombia)

^m HOSPITAL UNIVERSITARIO LA FE   (Spain)

ⁿ INSTITUTO DE CIENCIAS FÍSICAS   (Mexico)

^o CARIS LIFE SCIENCES   (United States)

^p Maine Medical Partners   (United States)

^q Barbara Bush Children's Hospital   (United States)

^r UNIVERSIDAD DEL ROSARIO   (Colombia)

^s Deptartment of Clinical Genetics   (Netherlands)

^t LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^u Gene by Gene Ltd   (United States)

^v Utah Foundation for Biomedical Research   (United States)

^w Tute Genomics   (United States)

^x BOSTON CHILDREN S HOSPITAL   (United States)

^y UNIVERSITÉ BOURGOGNE FRANCHE COMTÉ   (France)

^z DIJON UNIVERSITY HOSPITAL   (France)

^aa UNIV MONTPELLIER   (France)

^ab GUI DE CHAULIAC HOSPITAL   (France)

^ac GENEDX   (United States)

^ad UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^ae MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^af UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^ag ST MARY S HOSPITAL   (United Kingdom)

^ah RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

more..

Author keywords

abnormal gait; developmental delay; dystonia; facial dysmorphology; intellectual disability; intergluteal crease; neurologic features; TAF1; transcription

Indexed keywords

E BOX PROTEIN; PROTEIN; TATA BINDING PROTEIN ASSOCIATED FACTOR; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; HISTONE ACETYLTRANSFERASE; TATA-BINDING PROTEIN ASSOCIATED FACTOR 250 KDA; TRANSCRIPTION FACTOR IID;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL EVALUATION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DOWN REGULATION; FACE DYSMORPHIA; FAMILY ASSESSMENT; GENE DUPLICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC SCREENING; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MUSCLE HYPOTONIA; NERVE DEGENERATION; NEUROLOGIC DISEASE; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RNA SEQUENCE; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; ZEBRA FISH; ANIMAL; DEGENERATIVE DISEASE; DISEASE MODEL; E BOX ELEMENT; FACIES; FAMILY; GENE EXPRESSION REGULATION; GENETICS; INFANT; INHERITANCE; METABOLISM; MUTATION; PATHOLOGY; PEDIGREE; PHENOTYPE; SIGNAL TRANSDUCTION; YOUNG ADULT;

ADOLESCENT; ANIMALS; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; DISEASE MODELS, ANIMAL; E-BOX ELEMENTS; FACIES; FAMILY; GENE EXPRESSION REGULATION; HISTONE ACETYLTRANSFERASES; HUMANS; INFANT; INHERITANCE PATTERNS; INTELLECTUAL DISABILITY; MALE; MUTATION; NEURODEGENERATIVE DISEASES; PEDIGREE; PHENOTYPE; SIGNAL TRANSDUCTION; TATA-BINDING PROTEIN ASSOCIATED FACTORS; TRANSCRIPTION FACTOR TFIID; YOUNG ADULT; ZEBRAFISH;

EID: 84951835643     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.11.005     Document Type: Article

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