Clinical Characteristics of Three Cases with SAMD9/SAMD9L Gene Mutations

Clinical Characteristics of Three Cases with SAMD9/SAMD9L Gene Mutations

Mutations in the SAMD9 and SAMD9L genes are associated with MIRAGE syndrome and ATXPC syndrome, respectively. This study reports the clinical characteristics and genetic analysis of one case with SAMD9 mutation (c.3809T > A, p.F1270Y) and two cases with SAMD9L mutations (c.2675T > G, p.M892R;...

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Bibliographic Details
Main Authors: ZHU Ke, SUN Bijun, WANG Wenjie, ZHOU Qinhua, LIU Luyao, HOU Jia, WANG Xiaochuan, SUN Jinqiao
Format: Article
Language:zho
Published: Editorial Office of Journal of Rare Diseases 2024-10-01
Series:罕见病研究
Subjects:
samd9 gene
samd9l gene
mirage syndrome
atxpc syndrome
Online Access:https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.04.014
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