Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome
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DOI: 10.1016/j.celrep.2018.10.043
Abstract: SUMMARY Mutations of the transcriptional regulator PHF6 cause the X-linked intellectual disability disorder Börjeson-Forssman-Lehmann syndrome (BFLS), but the pathogenesis of BFLS remains poorly understood. Here, we report a mouse model of BFLS, generated using a… read more here.
Keywords: forssman lehmann; lehmann syndrome; rjeson forssman; mouse model ... See more keywords
Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome (BFLS).
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DOI: 10.1093/hmg/ddab081
Abstract: The PHF6 mutation c.1024C > T; p.R342X, is a recurrent cause of Börjeson-Forssman-Lehmann Syndrome (BFLS), a neurodevelopmental disorder characterized by moderate-severe intellectual disability, truncal obesity, gynecomastia, hypogonadism, long tapering fingers, and large ears (MIM#301900). Here, we generated… read more here.
Keywords: r342x; mice; bfls; forssman lehmann ... See more keywords
Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6
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DOI: 10.1111/cge.14173
Abstract: While inherited hemizygous variants in PHF6 cause X‐linked recessive Borjeson‐Forssman‐Lehmann syndrome (BFLS) in males, de novo heterozygous variants in females are associated with an overlapping but distinct phenotype, including moderate to severe intellectual disability, characteristic… read more here.
Keywords: forssman lehmann; lehmann syndrome; variants phf6; borjeson forssman ... See more keywords