Multiple café au lait spots in familial patients with MAP2K2 mutation

American Journal of Medical Genetics, Part A

Volumn 164, Issue 2, 2014, Pages 392-396

  Takenouchi, Toshiki ^a   Shimizu, Atsushi ^a   Torii, Chiharu ^a   Kosaki, Rika ^b   Takahashi, Takao ^a   Saya, Hideyuki ^a   Kosaki, Kenjiro ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

Cafe au lait spots; MAP2K2; Neurofibromatosis type 1; Neurofibromatosis Noonan syndrome; Noonan syndrome; Rasopathies

Indexed keywords

MITOGEN ACTIVATED PROTEIN KINASE; RAS PROTEIN;

ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE ACTIVITY; DISEASE ASSOCIATION; FAMILY HISTORY; FEMALE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENOME ANALYSIS; HUMAN; MAP2K2 GENE; MEDICAL HISTORY; MOLECULAR DYNAMICS; MOLECULAR PATHOLOGY; NEUROFIBROMATOSIS; NOONAN SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM;

CAFE AU LAIT SPOTS; MAP2K2; NEUROFIBROMATOSIS TYPE 1; NEUROFIBROMATOSIS-NOONAN SYNDROME; NOONAN SYNDROME; RASOPATHIES;

ADULT; AMINO ACID SEQUENCE; CAFE-AU-LAIT SPOTS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; HUMANS; MALE; MAP KINASE KINASE 2; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; SKIN;

EID: 84892895920     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36288     Document Type: Article

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