Phenotypic Analysis of Individuals With Costello Syndrome dye to HRAS p.G13C

Autor

GRIPP, Karen W¹ ; HOPKINS, Elizabeth¹ ; GRAHAM, Gail E⁸ ; BERTA SOUSA, Ana⁹ ; HELLER, Raoul¹⁰ ; PICCIONE, Maria¹¹ ; CORSELLO, Giovanni¹¹ ; HERMAN, Gail E¹² ; TARTAGLIA, Marco¹³ ; LIN, Angela E¹⁴ ; SOL-CHURCH, Katia² ; STABLEY, Deborah L² ; AXELRAD, Marni E³ ; DOYLE, Daniel⁴ ; DOBYNS, William B⁵ ; HUDSON, Cindy⁶ ; JOHNSON, John⁶ ; TENCONI, Romano⁷
[1] Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware, United States
[2] Department of Biomedical Research, Nemours' Children's Clinic, Wilmington, Delaware, United States
[3] Psychology Service, Texas Children's Hospital, Section of Psychology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States
[4] Division of Endocrinology, A. I. duPont Hospital for Children, Wilmington, Delaware, United States
[5] Seattle Children's Research Institute, Seattle, Washington, United States
[6] Medical Genetics, Shodair Children's Hospital, Helena, Montana, United States
[7] Clinical Genetics Unit, Department of Pediatrics, University of Padova, Padova, Italy
[8] Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
[9] Serviço de Genética Médica, Hospital de Santa Maria, Lisboa, Portugal
[10] Institut für Humangenetik, Klinikum der Universität zu Köln, Köln, Germany
[11] Mother and Child Department, University of Palermo, Palermo, Italy
[12] The Research Institute at Nationwide Children's Hospital, Columbus, Ohio, United States
[13] Department of Haematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy
[14] Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts, United States

Fuente

American journal of medical genetics. Part A. 2011, Vol 155, Num 4, pp 706-716, 11 p ; ref : 3/4 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

Costello syndrome genotype―phenotype correlation loose anagen hair rasopathy

Palabra clave (fr)

Corrélation Génotype Homme Phénotype Syndrome de Costello Syndrome du cheveu anagène caduc Typage Maladie héréditaire Malformation Pathologie de l'appareil circulatoire Pathologie de la peau Stomatologie Syndrome complexe

Palabra clave (in)

Correlation Genotype Human Phenotype Costello syndrome Loose anagen hair syndrome Typing Genetic disease Malformation Cardiovascular disease Skin disease Stomatology Complex syndrome

Palabra clave (es)

Correlación Genotipo Hombre Fenotipo Costello síndrome Cabello anágeno suelto síndrome Tipificación Enfermedad hereditaria Malformación Aparato circulatorio patología Piel patología Estomatología Síndrome complejo

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

24021483

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