scholarly journals PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

2002 ◽  
Vol 70 (6) ◽  
pp. 1555-1563 ◽  
Author(s):  
Marco Tartaglia ◽  
Kamini Kalidas ◽  
Adam Shaw ◽  
Xiaoling Song ◽  
Dan L. Musat ◽  
...  
Keyword(s):  
Noonan Syndrome ◽  
Phenotypic Heterogeneity ◽  
Molecular Spectrum ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

Ulerythema Ophryogenes, A Rarely Reported Cutaneous Manifestation of Noonan Syndrome: Case Report and Review of the Literature

2013 ◽  
Vol 17 (3) ◽  
pp. 212-218 ◽  
Author(s):  
Kayi Li ◽  
Mary Ann Thomas ◽  
Richard M. Haber
Keyword(s):  
Case Report ◽  
Noonan Syndrome ◽  
Cutaneous Manifestation ◽  
Review Of The Literature ◽  
Phenotype Correlation ◽  
Genetic Condition ◽  
Genotype Phenotype Correlation

Background: Ulerythema ophryogenes (also known as keratosis pilaris atrophicans faciei) is a rarely reported cutaneous manifestation of Noonan syndrome. Objective: Recognizing ulerythema ophryogenes as a cutaneous association in Noonan syndrome may aid in the diagnosis of this relatively common genetic condition. Methods: We present a case of a patient with Noonan syndrome and ulerythema ophryogenes associated with a SOS1 mutation and review the literature on this association. Results: To the best of our knowledge, this is the second case of Noonan syndrome proven to be due to an SOS1 mutation in which ulerythema ophryogenes was clinically recognized and specifically diagnosed. Conclusions: The presence of ulerythema ophryogenes in a patient with Noonan syndrome increases the likelihood of a SOS1 mutation. Further reports by dermatologists and medical geneticists documenting ulerythema ophryogenes and not just descriptions of sparse or absent eyebrows will help support this genotype-phenotype correlation.

P137 – 2976: Two cases of Noonan syndrome: Genotype–phenotype correlation

2015 ◽  
Vol 19 ◽  
pp. S132
Author(s):  
M. De Rademaeker ◽  
A. Jansen ◽  
I. Gies ◽  
G. Matthijs ◽  
B. Caljon ◽  
...  
Keyword(s):  
Noonan Syndrome ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome

2019 ◽  
Vol 66 (11) ◽  
pp. 983-994 ◽  
Author(s):  
Yasuko Shoji ◽  
Shinobu Ida ◽  
Tetsuya Niihori ◽  
Yoko Aoki ◽  
Nobuhiko Okamoto ◽  
...  
Keyword(s):  
Correlation Analysis ◽  
Noonan Syndrome ◽  
Japanese Patients ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

2003 ◽  
Vol 11 (2) ◽  
pp. 201-206 ◽  
Author(s):  
Luciana Musante ◽  
Hans G Kehl ◽  
Frank Majewski ◽  
Peter Meinecke ◽  
Susann Schweiger ◽  
...  
Keyword(s):  
Noonan Syndrome ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

A familial case of osteogenesis imperfecta: study of genotype-phenotype correlation

2013 ◽  
Author(s):  
Ponti Emanuela ◽  
Mihalich Alessandra ◽  
Broggi Francesca ◽  
Maria Di Blasio Anna ◽  
Luisa Bianchi Maria
Keyword(s):  
Osteogenesis Imperfecta ◽  
Familial Case ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation
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