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