Further clinical delineation of the Börjeson-Forssman-Lehmann syndrome in patients withPHF6mutations

Author:

Carter Melissa T.,Picketts David J.,Hunter Alasdair G.,Graham Gail E.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference14 articles.

1. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation;Allen;Am J Hum Genet,1992

2. Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome;Baumstark;J Med Genet,2003

3. An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder;Börjeson;Acta Med Scand,1962

4. Mutation screening in Börjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient;Crawford;J Med Genet,2006

5. The Börjeson-Forssman-Lehmann syndrome;Gecz;Eur J Hum Genet,2006

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