Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Genet Med. 2021 Jul;23(7):1234-1245. doi: 10.1038/s41436-021-01129-6. Epub 2021 Apr 6.
Genet Med. 2021.
PMID: 33824499
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