A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome

January 21, 2026
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AUTHORS

Muhammad Ansar, Samra Javed, Hafiz Muhammad Azhar Baig, Mathieu Quinodoz, Mukhtar Ullah, Ji Hoon Han, Muhammad Usama Rahim, Humera Kausar, Giacomo Calzetti, Carlo Rivolta

Ophthalmic Genet. 2022 Oct;43(5):720-723. doi: 10.1080/13816810.2022.2096242. Epub 2022 Aug 10.

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PMID:35946463 | DOI:10.1080/13816810.2022.2096242

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