Third reported patient with <scp> <i>RAP1B</i> ‐related </scp> syndromic thrombocytopenia and novel clinical findings-Reference-Cited by-同舟云学术

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Third reported patient with RAP1B ‐related syndromic thrombocytopenia and novel clinical findings

Published:2022-04-22 Issue:9 Volume:188 Page:2808-2814
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Miller Dana¹^ORCID,Saeed Azhar²^ORCID,Nelson Andrew C.²^ORCID,Bower Matthew¹^ORCID,Aggarwal Anjali³^ORCID

Affiliation:

1. M‐Health Fairview Minneapolis Minnesota USA

2. Department of Laboratory Medicine and Pathology University of Minnesota Minneapolis Minnesota USA

3. Division of Genetics and Metabolism, Department of Pediatrics University of Minnesota Minneapolis Minnesota USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62760

Reference17 articles.

1. RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

2. A review of craniofacial and dental findings of the RASopathies

3. Human RAS Superfamily Proteins and Related GTPases

4. Frequency of Aortic Dilation in Noonan Syndrome

5. Rap1a deficiency modifies cytokine responses and MAPK-signaling in vitro and impairs the in vivo inflammatory response

Cited by 3 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. Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency;Journal of Clinical Investigation;2024-07-11

2. Adding to the evidence of gene‐disease association of RAP1B and syndromic thrombocytopenia;Clinical Genetics;2023-10-18

3. Optical genome mapping identifies structural variants in potentially new cancer predisposition candidate genes in pediatric cancer patients;International Journal of Cancer;2023-09-30

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