A splice donor mutation in <i>NAA10</i> results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome - Concepedia

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A splice donor mutation in <i>NAA10</i> results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome

104

Citations

33

References

2014

Year

Taraneh Esmailpour, Hamidreza Riazifar, Linan Liu, Sandra Donkervoort, Vincent Huang, Shreshtha Madaan, Bassem M. Shoucri, Anke Busch, Jie Wu, Alexander J. Towbin,

Journal of Medical Genetics

Abstract

We conclude that the NAA10 mutation is the cause of LMS in this family, likely through the dysregulation of the retinoic acid signalling pathway.

References

	Year	Citations

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