The Börjeson–Forssman–Lehman syndrome (BFLS, MIM #301900)-Reference-Cited by-同舟云学术

The Börjeson–Forssman–Lehman syndrome (BFLS, MIM #301900)

Published:2006-08-16 Issue:12 Volume:14 Page:1233-1237
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Gécz Jozef,Turner Gillian,Nelson John,Partington Michael

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/5201639.pdf

Reference13 articles.

1. Lower KM, Turner G, Kerr BA et al: Mutations in PHF6 are associated with Börjeson–Forssman–Lehmann syndrome. Nat Genet 2002; 32: 661–665.

2. Crawford J, Lower KM, Hennekam RC et al: Mutation screening in Börjeson–Forssman–Lehmann Syndrome (BFLS): identification of a novel, de novo PHF6 mutation in a female patient. J Med Genet 2005; July 25: ; [E-pub ahead of print].

3. Just W, Mucke J : Towards a genotype-phenotype correlation in individuals with Börjeson–Forssman–Lehmann Syndrome. ESHG Meeting Abstract P0631 2005, Prague.

4. Turner G, Lower KM, White SM, et al: The clinical picture of the Börjeson–Forssman–Lehmann syndrome in males and heterozygous females with PHF6 mutations. Clin Genet 2004; 65: 226–232.

5. Lower KM, Solders G, Bondeson ML et al: 1024C>T (R342X) is a recurrent PHF6 mutation also in the original Börjeson–Forssman–Lehmann syndrome family. Eur J Hum Genet 2004; 12: 787–789.

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