Autosomal Dominant Syndrome of Mental Retardation, Hypotelorism, and Cleft Palate Resembling Schilbach-Rott Syndrome
- Author
- SHKALIM, Vered1 2 ; BARIS, Habit N1 2 ; SCHIRMACHER, Anja10 ; BALE, Sherri11 ; SHOHAT, Mordechai1 2 ; WILLEMS, Patrick J12 ; GAL, Gavriel3 4 ; GLEISS, Ruth4 5 ; CALDERON, Shlomo3 4 ; WESSELS, Marja6 ; MAAT-KIEVIT, Anneke8 ; MENTEN, Björn7 ; DE BAERE, Elfride7 ; HENNEKAM, Raoul C. M8 9
[1] The Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital and Schneider Children's Medical Center of Israel, Petah Tikva, Israel
[2] Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
[3] Department of Oral and Maxillofacial Surgery, Rabin Medical Center, Petah Tikva, Israel
[4] School of Dental Medicine, Tel Aviv University, Tel Aviv, Israel
[5] Orthodontic Department, Rabin Medical Center, Petah Tikva, Israel
[6] Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
[7] Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
[8] Clinical and Molecular Genetics Unit, Institute of Child Health, Great Ormond Street Hospital for Children, London, United Kingdom
[9] Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
[10] Department of Neurology, Uniklinik Münster, Münster, Germany
[11] GeneDx, Inc, Gaithersburg, Maryland, United States
[12] GENDIA, GENetic DIAgnostic Network, Antwerp, Belgium - Source
American journal of medical genetics. Part A. 2009, Vol 149, Num 12, pp 2700-2705, 6 p ; ref : 1/2 p
- Publisher
- Wiley-Liss, Chichester
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- Schilbach—Rott syndrome cleft palate hypotelorism mental retardation
- Keyword (fr)
- Bec de lièvre Caractère autosomique Caractère dominant Diagnostic différentiel Déficience intellectuelle Etude familiale Fissure congénitale Homme Palais Syndrome complexe Schilbach-Rott Syndrome Maladie congénitale Malformation Pathologie de la cavité buccale Stomatologie
- Keyword (en)
- Cleft lip Autosomal character Dominant character Differential diagnostic Intellectual deficiency Family study Congenital cleft Human Palate Complex syndrome Congenital disease Malformation Oral cavity disease Stomatology
- Keyword (es)
- Labio leporino Carácter autosómico Carácter dominante Diagnóstico diferencial Deficiencia intelectual Estudio familiar Fisura congenital Hombre Paladar Síndrome complejo Enfermedad congénita Malformación Cavidad bucal patología Estomatología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23E Complex syndromes
- Discipline
- Medical genetics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 22162379
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1002/ajmg.a.33095 
https://dx.doi.org/10.1002/ajmg.a.33095
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