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Pathogenesis of Borjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.
Jahani-Asl A, Cheng C, Zhang C, Bonni A. Jahani-Asl A, et al. Neurobiol Dis. 2016 Dec;96:227-235. doi: 10.1016/j.nbd.2016.09.011. Epub 2016 Sep 12. Neurobiol Dis. 2016. PMID: 27633282 Free PMC article. Review.
Recent studies have uncovered mechanisms by which mutations of the gene encoding plant homeodomain (PHD)-like finger protein 6 (PHF6) contribute to the pathogenesis of the X-linked intellectual disability disorder Borjeson-Forssman-Lehmann syndrome (BF …
Recent studies have uncovered mechanisms by which mutations of the gene encoding plant homeodomain (PHD)-like finger protein 6 (PHF6) contri …
[Borjeson-Forssman-Lehmann syndrome].
Fujieda K. Fujieda K. Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):147-9. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11057174 Review. Japanese. No abstract available.
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.
Zweier C, Rittinger O, Bader I, Berland S, Cole T, Degenhardt F, Di Donato N, Graul-Neumann L, Hoyer J, Lynch SA, Vlasak I, Wieczorek D. Zweier C, et al. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):290-301. doi: 10.1002/ajmg.c.31408. Epub 2014 Aug 5. Am J Med Genet C Semin Med Genet. 2014. PMID: 25099957 Review.
In adolescent or older patients, this phenotype overlaps but is not identical with Borjeson-Forssman-Lehmann syndrome in males, caused by X-linked recessive mutations in PHF6. ...
In adolescent or older patients, this phenotype overlaps but is not identical with Borjeson-Forssman-Lehmann syndrom
[Borjeson-Forssman-Lehmann syndrome].
Kubota T. Kubota T. Nihon Rinsho. 2006 Sep 28;Suppl 3:410-2. Nihon Rinsho. 2006. PMID: 17022575 Review. Japanese. No abstract available.
The Role of PHF6 in Hematopoiesis and Hematologic Malignancies.
Eisa YA, Guo Y, Yang FC. Eisa YA, et al. Stem Cell Rev Rep. 2023 Jan;19(1):67-75. doi: 10.1007/s12015-022-10447-4. Epub 2022 Aug 26. Stem Cell Rev Rep. 2023. PMID: 36008597 Review.
Germline mutation of PHF6 is the causative genetic alteration of the X-linked mental retardation Borjeson-Forssman-Lehmann syndrome (BFLS). Somatic mutations in PHF6 are identified in human leukemia, such as adult T-cell acute lymphoblastic leukemia (T …
Germline mutation of PHF6 is the causative genetic alteration of the X-linked mental retardation Borjeson-Forssman-Lehmann
[Borjeson-Forssman-Lehmann syndrome].
Kubota T. Kubota T. Ryoikibetsu Shokogun Shirizu. 2001;(33):284-5. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11462441 Review. Japanese. No abstract available.
Prader-Willi and other syndromes associated with obesity and mental retardation.
Gunay-Aygun M, Cassidy SB, Nicholls RD. Gunay-Aygun M, et al. Behav Genet. 1997 Jul;27(4):307-24. doi: 10.1023/a:1025683829856. Behav Genet. 1997. PMID: 9519559 Review.
Constitutional obesity and mental retardation cooccur in several multiple congenital anomaly syndromes, including Prader-Willi syndrome, Bardet-Biedl syndrome, Cohen syndrome, Albright hereditary osteodystrophy, and Borjeson-Forssman-Lehmann syndrome a …
Constitutional obesity and mental retardation cooccur in several multiple congenital anomaly syndromes, including Prader-Willi syndrome, Bar …