Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway.

Allanson, Judith E

Allanson, Judith E.

Affiliation

Allanson JE; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada. allanson@cheo.on.ca.

Am J Med Genet A ; 170(10): 2570-7, 2016 10.

Article in En | MEDLINE | ID: mdl-27155212

Subject(s)

Costello Syndrome/diagnosis; Ectodermal Dysplasia/diagnosis; Facies; Failure to Thrive/diagnosis; Heart Defects, Congenital/diagnosis; Noonan Syndrome/diagnosis; Adolescent; Adult; Age Factors; Body Weights and Measures; Child; Child, Preschool; Costello Syndrome/genetics; Costello Syndrome/metabolism; Diagnosis, Differential; Ectodermal Dysplasia/genetics; Ectodermal Dysplasia/metabolism; Failure to Thrive/genetics; Failure to Thrive/metabolism; Female; Heart Defects, Congenital/genetics; Heart Defects, Congenital/metabolism; Humans; Infant; Male; Mitogen-Activated Protein Kinases/metabolism; Noonan Syndrome/genetics; Noonan Syndrome/metabolism; Phenotype; Signal Transduction; Young Adult; ras Proteins/metabolism

Key words

Cardio-facio-cutaneous syndrome; Costello syndrome; Noonan syndrome; RasMAPK pathway; anthropometry; dysmorphology; rasopathy

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Full text: 1 Database: MEDLINE Main subject: Ectodermal Dysplasia / Facies / Failure to Thrive / Costello Syndrome / Heart Defects, Congenital / Noonan Syndrome Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Year: 2016 Type: Article

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