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De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and Wormian bones.

作者信息

Delatycki M B, Danks A, Churchyard A, Zhou X-P, Eng C

出版信息

J Med Genet. 2003 Aug;40(8):e92. doi: 10.1136/jmg.40.8.e92.

DOI:10.1136/jmg.40.8.e92
PMID:12920084
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1735566/
Abstract
摘要

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De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and Wormian bones.一名患有Lhermitte-Duclos病的男性发生了新发种系PTEN突变，该突变发生在父源染色体上，并遗传给了他患有多指畸形和缝间骨的孩子。
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let-7 and miR-140 microRNAs coordinately regulate skeletal development.let-7 和 miR-140 微 RNA 协同调控骨骼发育。
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