VPA genodermatoses_JAAD
收藏doi.org2025-01-22 收录
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http://doi.org/10.17632/fcnx69vg8t.1
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Supplementary tables:
S1: Overview of the genes included in the panel and their associated OMIM phenotype(s)
S2: Demographics, panel results, implications, and secondary/carriership findings
S3: Clinical characteristics of the patient cohort
S4: Molecular characteristics and ACMG criteria of the identified variants
S5: Overview of the alternative diagnoses made with the ‘skin panel’ and the respective management implications
S6: Negative cases solved with additional genetic testing.
补充表格:
S1:面板中包含的基因概述及其相关的OMIM表型(s)
S2:人口统计学、面板结果、影响及次级/携带者检测结果
S3:患者队列的临床特征
S4:鉴定变异的分子特征和ACMG标准
S5:使用‘皮肤面板’提出的替代诊断概述及其相应的管理影响
S6:通过额外的遗传测试解决的阴性病例。
提供机构:
Mendeley Data



