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

Author

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

Source

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

ISSN

1552-4825

Scientific domain

Genetics

Publisher

Wiley-Liss, Chichester

Publication country

United Kingdom

Document type

Article

Language

English

Author keyword

Costello syndrome genotype―phenotype correlation loose anagen hair rasopathy

Keyword (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

Keyword (en)

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

Keyword (es)

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

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

24021483

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