YIPF5 (p.W218R) mutation induced primary microcephaly in rabbits

Primary microcephaly (PMCPH) is a rare autosomal recessive neurodevelopmental disorder with a global prevalence of PMCPH ranging from 0.0013% to 0.15%. Recently, a homozygous missense mutation in YIPF5 (p.W218R) was identified as a causative mutation of severe microcephaly. In this study, we constru...

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主要な著者:	Xin Liu, Jie Yang, Zhaoyi Li, Ruonan Liu, Xinyu Wu, Zhongtian Zhang, Liangxue Lai, Zhanjun Li, Yuning Song
フォーマット:	Artigo
言語:	Inglês
出版事項:	Elsevier 2023-06-01
シリーズ:	Neurobiology of Disease
主題:	YIPF5 PMCPH Rabbit ERS Cerebral cortex SpRY-ABEmax
オンライン･アクセス:	http://www.sciencedirect.com/science/article/pii/S0969996123001493
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