Comprehensive clinical and molecular characterization of Neurofibromatosis Type 1: Unveiling the diversity of pathogenic variants and overlapping phenotypes

제목
Comprehensive clinical and molecular characterization of Neurofibromatosis Type 1: Unveiling the diversity of pathogenic variants and overlapping phenotypes
저자
JANG WOORI
학회명
European Society of Human Genetics Conference 2024
학회 개최일
2024-06-01 ~ 2024-06-04