PubMed (OMIM) for id: 78557

Year	Number of Results
1962	1
1974	1
1978	1
1983	1
1984	1
1985	1
1986	1
1989	3
1999	2
2002	1
2004	3
2024	0

1

A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome.

Vallée D, Chevrier E, Graham GE, Lazzaro MA, Lavigne PA, Hunter AG, Picketts DJ. Vallée D, et al. J Med Genet. 2004 Oct;41(10):778-83. doi: 10.1136/jmg.2004.020370. J Med Genet. 2004. PMID: 15466013 Free PMC article. No abstract available.

2

1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family.

Lower KM, Solders G, Bondeson ML, Nelson J, Brun A, Crawford J, Malm G, Börjeson M, Turner G, Partington M, Gécz J. Lower KM, et al. Eur J Hum Genet. 2004 Oct;12(10):787-9. doi: 10.1038/sj.ejhg.5201228. Eur J Hum Genet. 2004. PMID: 15241480 No abstract available.

3

The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

Turner G, Lower KM, White SM, Delatycki M, Lampe AK, Wright M, Smith JC, Kerr B, Schelley S, Hoyme HE, De Vries BB, Kleefstra T, Grompe M, Cox B, Gecz J, Partington M. Turner G, et al. Clin Genet. 2004 Mar;65(3):226-32. doi: 10.1111/j.0009-9163.2004.00215.x. Clin Genet. 2004. PMID: 14756673

4

An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder.

BORJESON M, FORSSMAN H, LEHMANN O. BORJESON M, et al. Acta Med Scand. 1962 Jan;171:13-21. doi: 10.1111/j.0954-6820.1962.tb04162.x. Acta Med Scand. 1962. PMID: 13871358 No abstract available.

5

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

Lower KM, Turner G, Kerr BA, Mathews KD, Shaw MA, Gedeon AK, Schelley S, Hoyme HE, White SM, Delatycki MB, Lampe AK, Clayton-Smith J, Stewart H, van Ravenswaay CM, de Vries BB, Cox B, Grompe M, Ross S, Thomas P, Mulley JC, Gécz J. Lower KM, et al. Nat Genet. 2002 Dec;32(4):661-5. doi: 10.1038/ng1040. Epub 2002 Nov 4. Nat Genet. 2002. PMID: 12415272

6

Börjeson-Forssman-Lehmann syndrome in a woman with skewed X-chromosome inactivation.

Kubota T, Oga S, Ohashi H, Iwamoto Y, Fukushima Y. Kubota T, et al. Am J Med Genet. 1999 Nov 26;87(3):258-61. Am J Med Genet. 1999. PMID: 10564881

7

Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient.

Gecz J, Baker E, Donnelly A, Ming JE, McDonald-McGinn DM, Spinner NB, Zackai EH, Sutherland GR, Mulley JC. Gecz J, et al. Hum Genet. 1999 Jan;104(1):56-63. doi: 10.1007/s004390050910. Hum Genet. 1999. PMID: 10071193

8

The Börjeson-Forssman-Lehmann syndrome.

Robinson LK, Jones KL, Culler F, Nyhan WL, Sakati N, Jones KL. Robinson LK, et al. Am J Med Genet. 1983 Jul;15(3):457-68. doi: 10.1002/ajmg.1320150311. Am J Med Genet. 1983. PMID: 6683929

9

Börjeson-Forssman-Lehmann syndrome: further delineation in five cases.

Ardinger HH, Hanson JW, Zellweger HU. Ardinger HH, et al. Am J Med Genet. 1984 Dec;19(4):653-64. doi: 10.1002/ajmg.1320190405. Am J Med Genet. 1984. PMID: 6517094

10

An inherited syndrome with mental deficiency and endocrine disorder. A patho-anatomical study.

Brun A, Börjeson M, Forssman H. Brun A, et al. J Ment Defic Res. 1974 Dec;18(4):317-25. doi: 10.1111/j.1365-2788.1974.tb01243.x. J Ment Defic Res. 1974. PMID: 4465467 No abstract available.

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