A novel homozygous RIPK4 variant in a family with severe Bartsocas‐Papas syndrome-Reference-Cited by-同舟云学术

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A novel homozygous RIPK4 variant in a family with severe Bartsocas‐Papas syndrome

Published:2021-03-13 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Dinçer Tuba¹^ORCID,Gümüş Evren²^ORCID,Toraman Bayram¹^ORCID,Er İdris³^ORCID,Yildiz Gokhan¹^ORCID,Yüksel Zafer⁴^ORCID,Kalay Ersan¹^ORCID

Affiliation:

1. Department of Medical Biology, Faculty of Medicine Karadeniz Technical University Trabzon Turkey

2. Department of Medical Genetics, Faculty of Medicine Muğla Sıtkı Koçman University Muğla Turkey

3. Department of Medical Biology, Institute of Health Science Karadeniz Technical University Trabzon Turkey

4. Department of Human Genetics Bioscientia GmbH Ingelheim Germany

Funder

Karadeniz Teknik Üniversitesi

Türkiye Bilimsel ve Teknolojik Araştirma Kurumu

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62154

Reference50 articles.

1. Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family

2. A method and server for predicting damaging missense mutations

3. Autosomal recessive multiple pterygium syndrome: A new variant?

4. DIK, a Novel Protein Kinase That Interacts with Protein Kinase Cδ

5. Popliteal pterygium syndrome. Evidence for a severe autosomal recessive form.

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. Role and mechanisms of the NF-ĸB signaling pathway in various developmental processes;Biomedicine & Pharmacotherapy;2022-09

2. RIPK4 regulates cell–cell adhesion in epidermal development and homeostasis;Human Molecular Genetics;2022-02-26

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