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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Korean Society for Neurorehabilitation
2023
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| Materias: | |
| 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 |