טוען...
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation
Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000 worldwide. Identification of genotype–phenotype correlations is challenging because of the wide range clinical variability, the progressive nature of the disorder, and extreme diversity of the mutational...
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הוצא לאור ב: | Hum Mutat |
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Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
פורמט: | Artigo |
שפה: | Inglês |
יצא לאור: |
John Wiley and Sons Inc.
2015
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גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5049609/ https://ncbi.nlm.nih.gov/pubmed/26178382 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22832 |
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