Associated Papers
Yield of Exome Sequencing for Mendelian Disorders Screening in Asymptomatic Fetuses Undergoing Prenatal Diagnosis: A Retrospective Analysis of 1766 Cases.
Wang G et al.
Prenatal Diagnosis, 2025
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
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