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: mmc1.xlsx › Sheet1
SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel.
Aleo S et al.
Molecular Syndromology, 2023
Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability.
Poquérusse J et al.
Journal of Human Genetics, 2022
Further delineation of the phenotype caused by loss of function mutations in PRMT7.
Valenzuela I et al.
European Journal of Medical Genetics, 2019
Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations.
Birnbaum R et al.
American Journal of Medical Genetics. Part A, 2019
Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer.
Snape K et al.
Breast Cancer Research and Treatment, 2012
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