The Face of Noonan Syndrome: Does Phenotype Predict Genotype

The facial photographs of 81 individuals with Noonan syndrome, from infancy to adulthood, have been evaluated by two dysmorphologists (JA and MZ), each of whom has considerable experience with disorders of the Ras/MAPK pathway. Thirty-two of this cohort have PTPN11 mutations, 21 SOS1 mutations, 11 R...

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Bibliografiske detaljer
Main Authors: Allanson, Judith E., Bohring, Axel, Dorr, Helmuth-Guenther, Dufke, Andreas, Gillessen-Kaesbach, Gabrielle, Horn, Denise, König, Rainer, Kratz, Christian P., Kutsche, Kerstin, Pauli, Silke, Raskin, Salmo, Rauch, Anita, Turner, Anne, Wieczorek, Dagmar, Zenker, Martin
Format: Artigo
Sprog:Inglês
Udgivet: 2010
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3115585/
https://ncbi.nlm.nih.gov/pubmed/20602484
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33518
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