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

Ieva Malniece; Adele Grasmane; Inna Inashkina; Janis Stavusis; Madara Kreile; Edvins Miklasevics; Linda Gailite

doi:10.12659/AJCR.922468

31 July 2020 : Case report Latvia

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

Rare disease

Ieva Malniece^1ABDE*, Adele Grasmane^23BDEF, Inna Inashkina^4BD, Janis Stavusis^4BCE, Madara Kreile^13AEF, Edvins Miklasevics^5AG, Linda Gailite^3DEG

DOI: 10.12659/AJCR.922468

Am J Case Rep 2020; 21:e922468

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Figure 2. The DNA sequence electropherogram of the PTPN11 variants of the described probands and their parents. Case 1: PTPN11: c.211T>C, p.Phe71Leu de novo variant. Case 2: PTPN11: c.226G>C, p.Glu76Gln de novo variant.

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

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