Associated Papers
High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.
Kunisetty B et al.
Investigative Ophthalmology & Visual Science, 2024
38502138 (PubMed )
Supplement: iovs-65-3-25_s002.xlsx › Sheet1
Case Report: Identification of a novel PRR12 variant in a Chinese boy with developmental delay and short stature.
Liu Z et al.
Frontiers in Pediatrics, 2024
38798311 (PubMed )
Supplement: Table1.xlsx › Sheet1
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Chowdhury F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.
Reis LM et al.
Clinical Genetics, 2021
De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.
Leduc MS et al.
Human Genetics, 2018
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