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Molecular Dissection of Somatic Skeletal Disease in Neurofibromatosis Type 1

Neurofibromatosis type 1 (NF1) is a tumor predisposition syndrome caused by heterozygous NF1 gene mutations. Patients with NF1 present with pleiotropic somatic secondary manifestations, including development of bone pseudarthrosis after fracture. Somatic NF1 gene mutations were reproducibly identifi...

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Detalles Bibliográficos
Autores principales: Paria, Nandina, Khalid, Aysha, Shen, Bo, Lemoine, Ben, Chan, Jinyan, Kidane, Yared H, Oxendine, Ila, Cornelia, Reuel, Wise, Carol A, Rios, Jonathan J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9898201/
https://www.ncbi.nlm.nih.gov/pubmed/36459048
http://dx.doi.org/10.1002/jbmr.4755