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BIALLELIC MUTATIONS IN PISD IDENTIFIED IN SIBLINGS WITH CONGENITAL CATARACTS AND EXTREME SHORT STATURE ADDS A NOVEL DISORDER TO THE EMERGING FAMILY OF MITOCHONDRIAL CHAPERONOPATHIES

A. M. Innes,C. Goedhart, T. Zhao,D. McLeod, S. Lingrell, J. Vance,R. Lamont,F. Bernier, D. Sinasac,J. Parboosingh,T. E. Shutt

AMERICAN JOURNAL OF MEDICAL GENETICS PART A(2018)

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