De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Nature Genetics

Volumn 44, Issue 4, 2012, Pages 440-444

  Rivière, Jean Baptiste ^a   Van Bon, Bregje W M ^b   Hoischen, Alexander ^b   Kholmanskikh, Stanislav S ^c   O'Roak, Brian J ^d   Gilissen, Christian ^b   Gijsen, Sabine ^b   Sullivan, Christopher T ^a   Christian, Susan L ^a   Abdul Rahman, Omar A ^e   Atkin, Joan F ^f   Chassaing, Nicolas ^g   Drouin Garraud, Valerie ^h   Fry, Andrew E ⁱ   Fryns, Jean Pierre ^j   Gripp, Karen W ^k   Kempers, Marlies ^b   Kleefstra, Tjitske ^b   Mancini, Grazia M S ^l   Nowaczyk, Małgorzata J M ^m   Van Ravenswaaij Arts, Conny M A ⁿ   Roscioli, Tony ^b   Marble, Michael ^o   Rosenfeld, Jill A ^p   Siu, Victoria M ^q   De Vries, Bert B A ^b   Shendure, Jay ^d   Verloes, Alain ^r   Veltman, Joris A ^b   Brunner, Han G ^b   Ross, M Elizabeth ^c   Pilz, Daniela T ⁱ   Dobyns, William B ^a,d,s   more..

^a SEATTLE CHILDREN S HOSPITAL   (United States)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c WEILL CORNELL MEDICAL COLLEGE   (United States)

^d UNIVERSITY OF WASHINGTON   (United States)

^e UNIVERSITY OF MISSISSIPPI SCHOOL OF MEDICINE   (United States)

^f THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

^g TOULOUSE UNIVERSITY HOSPITAL   (France)

^h ROUEN UNIVERSITY HOSPITAL   (France)

ⁱ UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^j UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^k NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^l ERASMUS MEDICAL CENTER   (Netherlands)

^m MCMASTER UNIVERSITY   (Canada)

ⁿ UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^o LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^p PERKINELMER INC   (United States)

^q UNIVERSITY OF WESTERN ONTARIO   (Canada)

^r HÔPITAL ROBERT DEBRÉ   (France)

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

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN; ALANINE; ARGININE; ASPARAGINE; ASPARTIC ACID; BETA ACTIN; HISTIDINE; ISOLEUCINE; LEUCINE; PHENYLALANINE; SERINE; THREONINE; TRYPTOPHAN; VALINE;

ACTB GENE; ACTG1 GENE; ADOLESCENT; ADULT; AGYRIA; AMINO ACID SUBSTITUTION; ARTICLE; BARAITSER WINTER SYNDROME; CHILD; CLINICAL ARTICLE; COLOBOMA; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; CYTOPLASM; EXOME; FACE DYSMORPHIA; GENE; GENE SEQUENCE; HEARING LOSS; HUMAN; HYPERTELORISM; INFANT; INTELLECTUAL IMPAIRMENT; IRIS COLOBOMA; MALFORMATION SYNDROME; MICROCEPHALY; MISSENSE MUTATION; NEURONAL MIGRATION DISORDER; NEWBORN; NUCLEOTIDE SEQUENCE; PACHYGYRIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; PTOSIS; SCHOOL CHILD; SEIZURE; SHORT STATURE;

ABNORMALITIES, MULTIPLE; ACTINS; ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; BRAIN; CHILD; COLOBOMA; DEVELOPMENTAL DISABILITIES; DNA COPY NUMBER VARIATIONS; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NERVOUS SYSTEM MALFORMATIONS; PAX9 TRANSCRIPTION FACTOR; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SYNDROME;

EID: 84859430859     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.1091     Document Type: Article

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