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Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome
We report a term male neonate with congenital myeloproliferative disorder, thrombocytopenia, a horseshoe kidney, feeding difficulty secondary to dysphagia/foregut dysmotility, and respiratory failure. Prenatal molecular genetic analysis revealed a fetus carrying c.184T>G (p.Tyr62Asp) pathogenic v...
Autores principales: | Puvabanditsin, Surasak, Abellar, Rosanna, Madubuko, Adaora, Mehta, Rajeev, Walzer, Lauren |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5833241/ https://www.ncbi.nlm.nih.gov/pubmed/29670795 http://dx.doi.org/10.1155/2018/6829586 |
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