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

European Journal of Pediatrics

Volumn 168, Issue 8, 2009, Pages 919-923

  Lo, Fu Sung ^a   Lin, Ju Li ^a   Kuo, Min Tzu ^a   Chiu, Pao Chin ^b   Shu, San Ging ^c   Chao, Mei Chyn ^d   Lee, Yann Jinn ^e   Lin, Shuan Pei ^e  

^a CHANG GUNG UNIVERSITY COLLEGE OF MEDICINE   (Taiwan)

^b KAOHSIUNG VETERANS GENERAL HOSPITAL   (Taiwan)

^c TAICHUNG VETERANS GENERAL HOSPITAL   (Taiwan)

^d KAOHSIUNG MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^e MACKAY MEMORIAL HOSPITAL   (Taiwan)

Author keywords

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

Indexed keywords

K RAS PROTEIN; PROTEIN TYROSINE PHOSPHATASE SHP 2;

ARTICLE; CHILD; CHINESE; COSTELLO SYNDROME; FEMALE; GENE FUNCTION; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NOONAN SYNDROME; PATHOGENESIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; TAIWAN;

ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; FEMALE; GERM-LINE MUTATION; HUMANS; MALE; NOONAN SYNDROME; PEDIGREE; PROTO-ONCOGENE PROTEINS; RAS PROTEINS; TAIWAN;

EID: 67449127851     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-008-0858-z     Document Type: Article

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