Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Genetics in medicine : official journal of the American College of Medical Genetics | 2023-01-01 | PMID 36399134
Cali Elisa, Suri Mohnish, Scala Marcello and 64 more
