Fetal Megalencephaly with Cortical Dysplasia at 18 Gestational Weeks Related to Paternal UPD Mosaicism with <i>PTEN</i> Mutation

Fetal Megalencephaly with Cortical Dysplasia at 18 Gestational Weeks Related to Paternal UPD Mosaicism with <i>PTEN</i> Mutation

The phosphatase and tensin homolog (<i>PTEN</i>) gene is a tumor-suppressor gene located on 10q22-23. Since the introduction of molecular genetics in prenatal diagnostics, various birth defects associated with gene mutations have been diagnosed. However, no reports on fetal cases related...

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Bibliographic Details
Main Authors: Ritsuko Kimata Pooh, Megumi Machida, Issei Imoto, Eri Noel Arai, Hiroyasu Ohashi, Masayoshi Takeda, Osamu Shimokawa, Kaori Fukuta, Arihiro Shiozaki, Shigeru Saito, Hideaki Chiyo
Format: Article
Language:English
Published: MDPI AG 2021-03-01
Series:Genes
Subjects:
<i>PTEN</i>
uniparental disomy
SNP
microarray
BAF
mosaicism
Online Access:https://www.mdpi.com/2073-4425/12/3/358

Internet

https://www.mdpi.com/2073-4425/12/3/358

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