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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Bibliografiske detaljer
Udgivet i: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
Sprog:Inglês
Udgivet: Cold Spring Harbor Laboratory Press 2017
Fag:
Research Report
Online adgang: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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