A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signaling pathway and causes Lenz microphthalmia syndrome

INTRODUCTION: Lenz microphthalmia syndrome (LMS) is a genetically heterogeneous X-linked disorder characterised by microphthalmia/anophthalmia, skeletal abnormalities, genitourinary malformations, and anomalies of the digits, ears, and teeth. Intellectual disability and seizure disorders are seen in...

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Udgivet i:J Med Genet
Main Authors: Esmailpour, Taraneh, Riazifar, Hamidreza, Liu, Linan, Donkervoort, Sandra, Huang, Vincent H, Madaan, Shreshtha, Shoucri, Bassem M, Busch, Anke, Wu, Jie, Towbin, Alexander, Chadwick, Robert B, Sequeira, Adolfo, Vawter, Marquis P, Sun, Guoli, Johnston, Jennifer J, Biesecker, Leslie G, Kawaguchi, Riki, Sun, Hui, Kimonis, Virginia, Huang, Taosheng
Format: Artigo
Sprog:Inglês
Udgivet: 2014
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4278941/
https://ncbi.nlm.nih.gov/pubmed/24431331
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2013-101660
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