Autor: Shun-Tao Jiao

Case Report: Biallelic PADI6 frameshift variants contribute to preimplantation embryonic lethality

Mar 11, 2026

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por

Shun-Tao Jiao

en Articulos, Case Report, Enfermedades Raras, Frontiers in Genetics

ObjectivesPreimplantation embryonic lethality (PREMBL) is a major cause of female infertility, characterized by early embryonic arrest. Homozygous or compound heterozygous mutations in PADI6 underlie preimplantation embryonic lethality-2 (PREMBL2). Thi…