Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3

Saleem Ahmed, Musharraf Jelani, Nuha Alrayes, Hussein Sheikh Ali Mohamoud, Mona Mohammad Almramhi, Wasim Anshasi, Naushad Ali Basheer Ahmed, Jun Wang, Jamal Nasir, Jumana Yousuf Al-Aama

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Medicine & Life Sciences