Autosomal Dominant Syndrome of Mental Retardation, Hypotelorism, and Cleft Palate Resembling Schilbach-Rott Syndrome

Autor

SHKALIM, Vered^{1 2} ; BARIS, Habit N^{1 2} ; SCHIRMACHER, Anja¹⁰ ; BALE, Sherri¹¹ ; SHOHAT, Mordechai^{1 2} ; WILLEMS, Patrick J¹² ; GAL, Gavriel^{3 4} ; GLEISS, Ruth^{4 5} ; CALDERON, Shlomo^{3 4} ; WESSELS, Marja⁶ ; MAAT-KIEVIT, Anneke⁸ ; MENTEN, Björn⁷ ; DE BAERE, Elfride⁷ ; HENNEKAM, Raoul C. M^{8 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

Fuente

American journal of medical genetics. Part A. 2009, Vol 149, Num 12, pp 2700-2705, 6 p ; ref : 1/2 p

ISSN

1552-4825

Campo Científico

Genetics

Editor

Wiley-Liss, Chichester

País de la publicación

United Kingdom

Tipo de documento

Article

Idioma

English

Palabra clave de autor

Schilbach—Rott syndrome cleft palate hypotelorism mental retardation

Palabra clave (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

Palabra clave (in)

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

Palabra clave (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

Clasificación

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23E Complex syndromes

Disciplina

Medical genetics

Procedencia

Inist-CNRS

Base de datos

PASCAL

Identificador INIST

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