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Co-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with KRAS Variant
We report the case of a 3-year-old girl, who is the third child of nonconsanguineous parents, with short stature, hypertrophic cardiomyopathy, and mild dysmorphic features; all suggestive of Noonan syndrome. In addition, the patient presents with feeding difficulties, deep palmar and plantar creases...
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| 出版年: | J Pediatr Genet |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Georg Thieme Verlag KG
2018
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| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6234039/ https://ncbi.nlm.nih.gov/pubmed/30430033 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0038-1653977 |
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