A novel nonsense variant in MED12 associated with malformations in a female fetus-Reference-Cited by-同舟云学术

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A novel nonsense variant in MED12 associated with malformations in a female fetus

Published:2021-12 Issue:12 Volume:9 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Faergeman Soren Lejsted¹^ORCID,Becher Naja¹²,Andreasen Lotte¹,Christiansen Marianne³,Frost Lise⁴,Vogel Ida¹²^ORCID

Affiliation:

1. Department of Clinical Genetics Aarhus University Hospital Aarhus Denmark

2. Center for Fetal Diagnostics Aarhus University Hospital Aarhus Denmark

3. Fetal Medicine Unit Department of Obstetrics and Gynecology Aarhus University Hospital Aarhus Denmark

4. Department of Forensic Medicine Aarhus University Aarhus Denmark

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.5124

Reference16 articles.

1. Med12 is essential for early mouse development and for canonical Wnt and Wnt/PCP signaling

2. De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

3. The complex structure and function of Mediator

4. A female patient with X‐linked Ohdo syndrome of the Maat‐Kievit‐Brunner phenotype caused by a novel variant of MED12

5. MED12related disorders

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A novel MED12 pathogenic variant in a female fetus with facial cleft and cardiac defects identified in the first trimester;Prenatal Diagnosis;2024-05-22

2. Prenatal diagnosis in a fetuses with a clenched hands, overlapping fingers, and clubfoot due to MED12 deficiency in three affected siblings: A case report;Frontiers in Genetics;2023-07-12

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