Encephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the NF1 gene.
Smeijers S, Brems H, Verhaeghe A, van Paesschen W, van Loon J, Van der Auweraer S, Sciot R, Thal DR, Lagae L, Legius E, Theys T.
Smeijers S, et al. Among authors: van paesschen w, van loon j, van der auweraer s.
J Med Genet. 2024 Aug 29;61(9):904-907. doi: 10.1136/jmg-2023-109785.
J Med Genet. 2024.
PMID: 38825366