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

Lookup NU author(s): Professor Robert Taylor

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Author(s): Rea G, Ware JS, Homfray T, Till J, Roses-Noguer F, Buchan R, Wilkinson S, Wilk A, Walsh R, John S, Mckee S, Stewart FJ, Murday V, Taylor RW, Baksi AJ, Daubeney P, Prasad S, Barton PJR, Cook SA

Publication type: Conference Proceedings (inc. Abstract)

Publication status: Published

Conference Name: British Congenital Cardiac Association Annual Meeting

Year of Conference: 2016

Pages: A18-A18

Print publication date: 01/03/2016

Acceptance date: 01/01/1900

ISSN: 1468-201X

Publisher: BMJ Group

URL: http://dx.doi.org/10.1136/heartjnl-2016-309377.35

DOI: 10.1136/heartjnl-2016-309377.35

Notes: P35

Series Title: Heart


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