A patient with POLA1 splice variant expands the yet evolving phenotype of Van Esch O'Driscoll syndrome
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
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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. DNA replication–associated inborn errors of immunity;Journal of Allergy and Clinical Immunology;2023-02
2. A Xp22.11-p21.3 microdeletion in a three-generation family supports male lethality of POLA1 nullisomy resulting in reduced fertility of female carriers;European Journal of Medical Genetics;2022-12
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