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The Fetal Phenotype of Noonan Syndrome Caused by Severe, Cancer-Related PTPN11 Variants

Case series Patients: Female, 37-year-old • Female, 31-year-old Final Diagnosis: Noonan syndrome Symptoms: Fetal nuchal fold thickening Medication: — Clinical Procedure: Chorionic villi sampling Specialty: Genetics • Obstetrics and Gynecology OBJECTIVE: Rare disease BACKGROUND: The nuchal translucen...

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Detalles Bibliográficos
Autores principales:	Malniece, Ieva, Grasmane, Adele, Inashkina, Inna, Stavusis, Janis, Kreile, Madara, Miklasevics, Edvins, Gailite, Linda
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	International Scientific Literature, Inc. 2020
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7414826/ https://www.ncbi.nlm.nih.gov/pubmed/32794475 http://dx.doi.org/10.12659/AJCR.922468

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