A case of non-immune hydrops fetalis with maternal mirror syndrome diagnosed by trio-based exome sequencing: An autopsy case report and literature review

A case of non-immune hydrops fetalis with maternal mirror syndrome diagnosed by trio-based exome sequencing: An autopsy case report and literature review

Non-immune hydrops fetalis (NIHF) indicates the risk for stillbirth. Although the causes vary and most NIHFs have no identifiable cause, recent advances in exome sequencing have increased diagnostic rates.We report a case of NIHF that developed into a giant cystic hygroma complicated by maternal mir...

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Bibliographic Details
Main Authors: Sho Tano, Tomomi Kotani, Masato Yoshihara, Noriyuki Nakamura, Seiko Matsuo, Takafumi Ushida, Kenji Imai, Miharu Ito, Yasuyoshi Oka, Emi Sato, Shin Hayashi, Tomoo Ogi, Hiroaki Kajiyama
Format: Article
Language:English
Published: Elsevier 2022-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
exome sequencing
hydrops fetalis
mirror syndrome
Noonan syndrome
RIT1
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426922000854

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http://www.sciencedirect.com/science/article/pii/S2214426922000854

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