Borjeson-Forssman-Lehmann Syndrome: Clinical Features and Diagnostic Challenges

Borjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked recessive disorder resulting from mutations in the PHF6 gene. The syndrome is characterized by short stature, obesity, hypogonadism, hypotonia, intellectual disability, distinctive facial features, fleshy ears, and finger and toe abnormalities...

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Detalles Bibliográficos
Autores principales: Hameed, Marya, Siddiqui, Fatima, Sheikh, Fahad Hassan, Khan, Muhammad Khuzzaim, Admani, Bushra, Gangishetti, Prasanna Kumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society for Neurorehabilitation 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10689860/
https://www.ncbi.nlm.nih.gov/pubmed/38047102
http://dx.doi.org/10.12786/bn.2023.16.e32

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10689860/
https://www.ncbi.nlm.nih.gov/pubmed/38047102
http://dx.doi.org/10.12786/bn.2023.16.e32

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