4.2 Article

Noonan syndrome: Prenatal diagnosis in a woman carrying a PTPN11 gene mutation

Journal

JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
Volume 23, Issue 7, Pages 688-691

Publisher

TAYLOR & FRANCIS LTD
DOI: 10.3109/14767050903440455

Keywords

Prenatal diagnosis; Noonan syndrome; PTPN11 gene

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Objective. To describe the case of a pregnant woman and her fetus with Noonan syndrome (NS) whom were diagnosed through ultrasonography 3D and molecular analysis of the PTPN11 gene. Study design. Case report. Results. We detected in a pregnant woman and her child the G

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