Elizabeth Langley Laura S Farach Kate Mowrey
10.3389/fgene.2022.1044660
Front Genet
2022 Nov 9;13:1044660.
nfix genetic counseling germline mosaicism intellectual disability malan syndrome overgrowth recurrence risk
CC BY
https://pubmed.ncbi.nlm.nih.gov/36437934/
Case Reports
PMC9682143
36437934
Case Report: Novel pathogenic variant in NFIX in two sisters with Malan syndrome due to germline mosaicism
2022