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Published in 2020 at "Journal of Molecular Neuroscience"
DOI: 10.1007/s12031-020-01560-5
Abstract: Börjeson-Forssman-Lehman Syndrome (BFLS) is a rare X-linked recessive syndrome characterized by intellectual disability, developmental delay, obesity, epilepsy, swelling of the subcutaneous tissues of the face, large but not deformed ears, hypogonadism, and gynecomastia. Pathogenic mutations…
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Keywords:
phf6;
forssman lehman;
phf6 gene;
rjeson forssman ... See more keywords