Pathogenic variant in NLRP7 (19q13.42) associated with recurrent gestational trophoblastic disease: Data from early embryo development observed during in vitro fertilization

OBJECTIVE: To describe in vitro development of human embryos derived from an individual with a homozygous pathogenic variant in NLRP7 (19q13.42) and recurrent hydatidiform mole (HM), an autosomal recessive condition thought to occur secondary to an oocyte defect. METHODS: A patient with five consecu...

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Detalles Bibliográficos
Autores principales: Sills, E. Scott, Obregon-Tito, Alexandra J., Gao, Harry, McWilliams, Thomas K., Gordon, Anthony T., Adams, Catharine A., Slim, Rima
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Reproductive Medicine 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395551/
https://www.ncbi.nlm.nih.gov/pubmed/28428943
http://dx.doi.org/10.5653/cerm.2017.44.1.40

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