Associated Papers
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
Genotype-Phenotype Correlations in Relation to Newly Emerging Monogenic Forms of Autism Spectrum Disorder and Associated Neurodevelopmental Disorders: The Importance of Phenotype Reevaluation after Pangenomic Results.
Lintas C et al.
Journal of Clinical Medicine, 2021
Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.
Reis LM et al.
Clinical Genetics, 2021
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