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

The phosphatase and tensin homolog (PTEN) 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 to PTEN mutation h...

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Detalles Bibliográficos
Autores principales: Pooh, Ritsuko Kimata, Machida, Megumi, Imoto, Issei, Arai, Eri Noel, Ohashi, Hiroyasu, Takeda, Masayoshi, Shimokawa, Osamu, Fukuta, Kaori, Shiozaki, Arihiro, Saito, Shigeru, Chiyo, Hideaki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7999901/
https://www.ncbi.nlm.nih.gov/pubmed/33801456
http://dx.doi.org/10.3390/genes12030358

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