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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...

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Detalles Bibliográficos
Autores principales: Puvabanditsin, Surasak, Abellar, Rosanna, Madubuko, Adaora, Mehta, Rajeev, Walzer, Lauren
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
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