A rare CTSC mutation in Papillon-Lefèvre Syndrome
收藏NIAID Data Ecosystem2026-03-13 收录
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https://www.omicsdi.org/dataset/ega/EGAS00001005040
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资源简介：
Papillon-Lefèvre Syndrome (PLS) is an autosomal recessive monogenic disease caused by loss-of-function mutations in the CTSC gene. In this study we performed whole genome sequencing on two siblings, with the PLS-typical symptoms. After sequencing the CTSC gene was analyzed to confirm the PLS diagnosis genetically.EGA study EGAS00001005040
创建时间：
2021-10-28
