Mutations in PHF6 are associated with Börjeson–Forssman –Lehmann syndrome-Reference-Cited by-同舟云学术

Mutations in PHF6 are associated with Börjeson–Forssman –Lehmann syndrome

Published:2002-11-04 Issue:4 Volume:32 Page:661-665
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Lower Karen M.,Turner Gillian,Kerr Bronwyn A.,Mathews Katherine D.,Shaw Marie A.,Gedeon Ági K.,Schelley Susan,Hoyme H. Eugene,White Susan M.,Delatycki Martin B.,Lampe Anne K.,Clayton-Smith Jill,Stewart Helen,van Ravenswaay Conny M. A.,de Vries Bert B. A.,Cox Barbara,Grompe Markus,Ross Shelley,Thomas Paul,Mulley John C.,Gécz Jozef

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1040z.pdf

Reference26 articles.

1. Börjeson, M., Forssman, H. & Lehmann, O. An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder. Acta Med. Scand. 171, 13–21 (1962).

2. Gedeon, A.K. et al. Refinement of the background genetic map of Xq26-q27 and gene localization for Borjeson–Forssman–Lehmann Syndrome. Am. J. Med. Genet. 64, 63–68 (1996).

3. Mathews, K.D. et al. Linkage localization of Borjeson–Forssman–Lehmann syndrome. Am. J. Med. Genet. 34, 470–474 (1989).

4. Turner, G. et al. Borjeson–Forssman–Lehmann syndrome: clinical manifestations and gene localization to Xq26-27. Am. J. Med. Genet. 34, 463–469 (1989).

5. Skare, J.C. et al. Characterization of three overlapping deletions causing X-linked lymphoproliferative disease. Genomics 16, 254–255 (1993).

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