Identification of a Founder GLDN Variant Associated With “Lethal” Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long-Term Survivors’ Management
Am J Med Genet A. 2024 Dec 23:e63974. doi: 10.1002/ajmg.a.63974. Online ahead of print. ABSTRACT Biallelic variants in GLDN have recently been associated with lethal …