Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature

Author

LO, Fu-Sung¹ ; LIN, Ju-Li¹ ; KUO, Min-Tzu¹ ; CHIU, Pao-Chin² ; SHU, San-Ging³ ; CHAO, Mei-Chyn⁴ ; LEE, Yann-Jinn⁵ ; LIN, Shuan-Pei⁵
[1] Division of Pediatric Endocrinology, Department of Pediatrics, Chang Gung Memorial Hospital, Chung Gung University College of Medicine, 5, Fu-Shing Street, Kweishan, Taoyuan, 333, Taiwan, Province of China
[2] Department of Pediatrics, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan, Province of China
[3] Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan, Province of China
[4] Department of Pediatrics, Kaoshiung Medical University Hospital, Kaoshiung, Taiwan, Province of China
[5] Departments of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan, Province of China

Source

European journal of pediatrics. 2009, Vol 168, Num 8, pp 919-923, 5 p ; ref : 18 ref

CODEN

EJPEDT

ISSN

0340-6199

Scientific domain

Genetics; Pediatrics

Publisher

Springer, Heidelberg

Publication country

Germany

Document type

Article

Language

English

Author keyword

Cardio-facio-cutaneous syndrome Costello syndrome KRAS Mutation analysis Noonan syndrome

Keyword (fr)

Analyse Article synthèse Etude cas Gène K ras Gène onc cellulaire Génétique Homme Lignée germinale Mutation Protooncogène Pédiatrie Revue bibliographique Syndrome de Costello Syndrome de Noonan Cardio facio cutané syndrome Taiwan Maladie héréditaire Malformation Ostéochondrodysplasie Pathologie de l'appareil circulatoire Pathologie de la peau Pathologie du système nerveux Pathologie du système ostéoarticulaire Stomatologie Syndrome complexe Asie

Keyword (en)

Analysis Review Case study K ras Gene C-Onc gene Genetics Human Germ line Mutation Protooncogene Pediatrics Bibliographic review Costello syndrome Noonan syndrome Cardio facio cutaneous syndrome Taiwan Genetic disease Malformation Osteochondrodysplasia Cardiovascular disease Skin disease Nervous system diseases Diseases of the osteoarticular system Stomatology Complex syndrome Asia

Keyword (es)

Análisis Artículo síntesis Estudio caso Gen K ras Gen onc celular Genética Hombre Línea germinal Mutación Protooncogen Pediatría Revista bibliográfica Costello síndrome Noonan síndrome Taiwan Enfermedad hereditaria Malformación Osteocondrodisplasia Aparato circulatorio patología Piel patología Sistema nervioso patología Sistema osteoarticular patología Estomatología Síndrome complejo Asia

Classification

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B01 General aspects

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B15 Diseases of the osteoarticular system / 002B15H Malformations and congenital and or hereditary diseases involving bones. Joint deformations

Pascal

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

Discipline

Generalities in medical sciences Medical genetics Osteoarticular pathology

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

21662589

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