Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the NF1 Gene and a Mutation in NR5A1

Neurofibromatosis type 1 is one of the most common genetic autosomal dominant disorders described, with a prevalence of 1 in 2000 to 1 in 3000 individuals. It is characterized by skin, nerves, and bone abnormalities. Non-related to NF1, hypospadias is a displacement in the urethral opening which in...

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Detalles Bibliográficos
Autores principales: Perafan-Valdes, Lina, Giraldo-Ocampo, Sebastian, Lores, Juliana, Pachajoa, Harry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9617560/
https://www.ncbi.nlm.nih.gov/pubmed/36317063
http://dx.doi.org/10.2147/PGPM.S380796

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9617560/
https://www.ncbi.nlm.nih.gov/pubmed/36317063
http://dx.doi.org/10.2147/PGPM.S380796

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