Cargando…

Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that affects the skin and the nervous system. The condition is completely penetrant with extreme clinical variability, resulting in unpredictable manifestations in affected offspring, complicating reproductive decision-making. One of t...

Descripción completa

Detalles Bibliográficos
Autores principales: Vernimmen, Vivian, Paulussen, Aimée D. C., Dreesen, Jos C. F. M., van Golde, Ron J., Zamani Esteki, Masoud, Coonen, Edith, van Buul-van Zwet, Marianne L., Homminga, Irene, Derijck, Alwin A. H. A., Brandts, Lloyd, Stumpel, Constance T. R. M., de Die-Smulders, Christine E. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10400537/
https://www.ncbi.nlm.nih.gov/pubmed/37337089
http://dx.doi.org/10.1038/s41431-023-01404-x