A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome
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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… read more here.
Keywords: phf6; forssman lehman; phf6 gene; rjeson forssman ... See more keywords