Baraitser-Winter cerebrofrontofacial syndrome: Delineation of the spectrum in 42 cases

European Journal of Human Genetics

Volumn 23, Issue 3, 2015, Pages 292-301

  Verloes, Alain ^a   Di Donato, Nataliya ^b   Masliah Planchon, Julien ^a   Jongmans, Marjolijn ^c   Abdul Raman, Omar A ^d   Albrecht, Beate ^e   Allanson, Judith ^f   Brunner, Han ^c   Bertola, Debora ^g   Chassaing, Nicolas ^h   David, Albert ⁱ   Devriendt, Koen ^j   Eftekhari, Pirayeh ^k   Drouin Garraud, Valérie ^l   Faravelli, Francesca ^m   Faivre, Laurence ⁿ   Giuliano, Fabienne ^o   Guion Almeida, Leina ^g   Juncos, Jorge ^p   Kempers, Marlies ^c   Eker, Hatice Koçak ^q   Lacombe, Didier ^r   Lin, Angela ^s   Mancini, Grazia ^t   Melis, Daniela ^u   Lourenço, Charles Marques ^g   Siu, Victoria Mok ^v   Morin, Gilles ^w   Nezarati, Marjan ^x   Nowaczyk, Malgorzata J M ^y   Ramer, Jeanette C ^z   Osimani, Sara ^a   Philip, Nicole ^aa   Pierpont, Mary Ella ^ab   Procaccio, Vincent ^ac   Roseli, Zeichi Seide ^g   Rossi, Massimiliano ^ad   Rusu, Cristina ^ae   Sznajer, Yves ^af   Templin, Ludivine ^aa   Uliana, Vera ^m   Klaus, Mirjam ^ag   Van Bon, Bregje ^c   Van Ravenswaaij, Conny ^ah   Wainer, Bruce ^ai   Fry, Andrew E ^aj   Rump, Andreas ^b   Hoischen, Alexander ^c   Drunat, Séverine ^a   Rivière, Jean Baptiste ^m,ak   Dobyns, William B ^ak   Pilz, Daniela T ^aj   more..

^a HÔPITAL ROBERT DEBRÉ   (France)

^b DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

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

^e UNIVERSITY HOSPITAL ESSEN   (Germany)

^f CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^g UNIVERSITY OF SÃO PAULO   (Brazil)

^h CHU PURPAN   (France)

ⁱ NANTES UNIVERSITY HOSPITAL   (France)

^j UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^k HÔPITAL LARIBOISIÈRE   (France)

^l ROUEN UNIVERSITY HOSPITAL   (France)

^m GALLIERA HOSPITAL   (Italy)

ⁿ DIJON UNIVERSITY HOSPITAL   (France)

^o UNIVERSITY HOSPITAL OF NICE   (France)

^p EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^q Section of Pediatric Surgery   (Turkey)

^r BORDEAUX UNIVERSITY HOSPITAL   (France)

^s MASSACHUSETTS GENERAL HOSPITAL   (United States)

^t ERASMUS MEDICAL CENTER   (Netherlands)

^u UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^v WESTERN UNIVERSITY   (Canada)

^w AMIENS UNIVERSITY HOSPITAL   (France)

^x NORTH YORK GENERAL HOSPITAL   (Canada)

^y MCMASTER UNIVERSITY   (Canada)

^z PENN STATE COLLEGE OF MEDICINE   (United States)

^aa TIMONE HOSPITAL   (France)

^ab UNIVERSITY OF MINNESOTA MEDICAL CENTER   (United States)

^ac ANGERS UNIVERSITY HOSPITAL   (France)

^ad HOSPICES CIVILS DE LYON   (France)

^ae GRIGORE T POPA UNIVERSITY OF MEDICINE AND PHARMACY   (Romania)

^af CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^ag Mitteldeutscher Praxisverbund Humangenetik   (Germany)

^ah UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^ai Office of the Chief Medical Examiner   (United States)

^aj UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^ak SEATTLE CHILDREN S HOSPITAL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN; ACTIN GAMMA 1; BETA ACTIN; UNCLASSIFIED DRUG;

ACUTE LYMPHOBLASTIC LEUKEMIA; AGYRIA; ARTHROGRYPOSIS; ARTICLE; BARAITSER WINTER CEREBROFRONTOFACIAL SYNDROME; CAMPTODACTYLY; CENTRAL NERVOUS SYSTEM MALFORMATION; CHILD; CHILDHOOD LEUKEMIA; CLEFT LIP; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CORPUS CALLOSUM AGENESIS; CRANIOFACIAL MALFORMATION; DISEASE SEVERITY; DYSTONIA; EPICANTHUS; EPILEPSY; ESOPHAGUS ACHALASIA; EYEBROW; FACIES; FEMALE; GAIN OF FUNCTION MUTATION; GENETIC DISORDER; HALLUX; HETEROTOPIA; HUMAN; HYPERTELORISM; INTELLECTUAL IMPAIRMENT; IRIS COLOBOMA; JOINT STIFFNESS; LEUKEMIA REMISSION; LOSS OF FUNCTION MUTATION; MACROGYRIA; MALE; MALFORMATION SYNDROME; MICROCEPHALY; MOLECULAR PATHOLOGY; NEUROIMAGING; NOSE MALFORMATION; PALPEBRAL FISSURE; PERCEPTION DEAFNESS; PERIVENTRICULAR HETEROTOPIA; PHENOTYPE; PRENATAL GROWTH; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; PTOSIS; RETROGNATHIA; SCOLIOSIS; SHORT STATURE; SHOULDER GIRDLE; SKIN LYMPHOMA; SYNDROME DELINEATION; ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; CRANIOFACIAL ABNORMALITIES; GENE LOCUS; GENE ORDER; GENETICS; MUTATION; PRESCHOOL CHILD; YOUNG ADULT;

ABNORMALITIES, MULTIPLE; ACTINS; ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; FACIES; FEMALE; GENE ORDER; GENETIC LOCI; HUMANS; MALE; MUTATION; PHENOTYPE; YOUNG ADULT;

EID: 84938423531     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.95     Document Type: Article

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