PRR12

Publications

Chowdhury F et al. Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities. Genet Med. 2021;23(7):1234-45: 33824499. PMID: 33824499.

Reis LM et al. Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia. Clin Genet. 2021;99(3):437-42. PMID: 33314030.

Leduc MS et al. De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities. Hum Genet. 2018;137(3):257-64. PMID: 29556724.

Córdova-Fletes C et al. A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations. Neurogenetics. 2015; 16(4):287-98. PMID: 26163108.