Associated Papers
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Cali E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
36399134 (PubMed )
Supplement: mmc4.docx
Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability.
Poquérusse J et al.
Journal of Human Genetics, 2022
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