Redefining the MED13L syndrome

European Journal of Human Genetics

Volumn 23, Issue 10, 2015, Pages 1308-1317

  Adegbola, Abidemi ^a   Musante, Luciana ^b   Callewaert, Bert ^c   Maciel, Patricia ^d,e   Hu, Hao ^b   Isidor, Bertrand ^f,g   Picker Minh, Sylvie ^h   Le Caignec, Cedric ^f,g   Chiaie, Barbara Delle ^c   Vanakker, Olivier ^c   Menten, Björn ^c   Dheedene, Annelies ^c   Bockaert, Nele ^c   Roelens, Filip ⁱ   Decaestecker, Karin ^j   Silva, João ^k   Soares, Gabriela ^l   Lopes, Fátima ^d,e   Najmabadi, Hossein ^m   Kahrizi, Kimia ^m   Cox, Gerald F ⁿ   Angus, Steven P ^o   Staropoli, John F ^p   Fischer, Ute ^b   Suckow, Vanessa ^b   Bartsch, Oliver ^q   Chess, Andrew ^a   Ropers, Hans Hilger ^b   Wienker, Thomas F ^b   Hübner, Christoph ^h   Kaindl, Angela M ^h   Kalscheuer, Vera M ^b   more..

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c GHENT UNIVERSITY HOSPITAL   (Belgium)

^d UNIVERSITY OF MINHO   (Portugal)

^e UNIVERSITY OF MINHO   (Portugal)

^f NANTES UNIVERSITY HOSPITAL   (France)

^g UNIVERSITÉ DE NANTES   (France)

^h CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

ⁱ Heilig Hart Ziekenhuis   (Belgium)

^j Stedelijk Ziekenhuis Roeselare   (Belgium)

^k UNIVERSITY OF PORTO   (Portugal)

^l Porto Hospital Centre ^*  (Portugal)

^m UNIVERSITY OF SOCIAL WELFARE AND REHABILITATION SCIENCES   (Iran)

ⁿ BOSTON CHILDREN S HOSPITAL   (United States)

^o UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^p BIOGEN   (United States)

^q UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; HISTAMINE H1 RECEPTOR ANTAGONIST; KETOTIFEN; MEDIATOR COMPLEX; MEDIATOR COMPLEX SUBUNIT 13 LIKE PROTEIN; STEROID; UNCLASSIFIED DRUG; MED13L PROTEIN, HUMAN;

ADOLESCENT; ARACHNOID CYST; ARTHROGRYPOSIS; ARTICLE; ASTIGMATISM; ATAXIA; BEHAVIOR DISORDER; BRACHYCEPHALY; CHILD; CLINICAL ARTICLE; CLINODACTYLY; COHORT ANALYSIS; CONGENITAL HEART MALFORMATION; CRYPTORCHISM; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEMALE; FRONTAL BOSSING; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC VARIABILITY; HEARING DISORDER; HEARING IMPAIRMENT; HEART VENTRICLE SEPTUM DEFECT; HETEROZYGOTE; HIGH ARCHED PALATE; HUMAN; HYALINE MEMBRANE DISEASE; HYPERMETROPIA; HYPERTELORISM; INTELLECTUAL IMPAIRMENT; KARYOTYPING; LANGUAGE DELAY; LANGUAGE DISABILITY; LOW SET EAR; MACROSTOMIA; MALE; MED13L SYNDROME; MUSCLE HYPOTONIA; PLAGIOCEPHALY; PNEUMONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNATHIA; PTOSIS; PYRAMIDAL SIGN; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SHORT STATURE; SPEECH DELAY; SPEECH DISORDER; STRABISMUS; UMBILICAL HERNIA; UPPER RESPIRATORY TRACT INFECTION; WHEEZING; GENETICS; GREAT VESSELS TRANSPOSITION; MULTIPLE MALFORMATION SYNDROME; MUTATION; PHENOTYPE; SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE; MEDIATOR COMPLEX; MUSCLE HYPOTONIA; MUTATION; PHENOTYPE; SYNDROME; TRANSPOSITION OF GREAT VESSELS;

EID: 84944171575     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.26     Document Type: Article

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