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A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome.
J Clin Res Pediatr Endocrinol. 2019 Nov 22;11(4):419-425. doi: 10.4274/jcrpe.galenos.2019.2018.0220. Epub 2019 Jan 11.
J Clin Res Pediatr Endocrinol. 2019.
PMID: 30630810
Free PMC article.
Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked disease caused by PHF6 mutations. ...
Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked disease caused by PHF6 mutations. ...
The depletion of PHF6 decreases the drug sensitivity of T-cell acute lymphoblastic leukemia to prednisolone.
Xiang J, Wang G, Xia T, Chen Z.
Xiang J, et al.
Biomed Pharmacother. 2019 Jan;109:2210-2217. doi: 10.1016/j.biopha.2018.11.083. Epub 2018 Nov 28.
Biomed Pharmacother. 2019.
PMID: 30551478
Free article.
Mutation of PHF6 has been identified in Borjeson-Forssman-Lehmann syndrome and some types of subsets of childhood leukemia. ...
Mutation of PHF6 has been identified in Borjeson-Forssman-Lehmann syndrome and some types of subsets of childhoo …
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