Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11

Variants in NDUFB11, which encodes a structural component of complex I of the mitochondrial respiratory chain (MRC), were recently independently reported to cause histiocytoid cardiomyopathy (histiocytoid CM) and microphthalmia with linear skin defects syndrome (MLS syndrome). Here we report an addi...

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Bibliografske podrobnosti
izdano v:Cold Spring Harb Mol Case Stud
Main Authors: Rea, Gillian, Homfray, Tessa, Till, Jan, Roses-Noguer, Ferran, Buchan, Rachel J., Wilkinson, Sam, Wilk, Alicja, Walsh, Roddy, John, Shibu, McKee, Shane, Stewart, Fiona J., Murday, Victoria, Taylor, Robert W., Ashworth, Michael, Baksi, A. John, Daubeney, Piers, Prasad, Sanjay, Barton, Paul J.R., Cook, Stuart A., Ware, James S.
Format: Artigo
Jezik:Inglês
Izdano: Cold Spring Harbor Laboratory Press 2017
Teme:
Research Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5171697/
https://ncbi.nlm.nih.gov/pubmed/28050600
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a001271
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