Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient.

@article{Crawford2006MutationSI,
  title={Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient.},
  author={Jo Crawford and Karen M. Lower and Raoul C. M. Hennekam and Hilde van Esch and Andr{\'e} M{\'e}garban{\'e} and Sally Ann Lynch and Gillian Turner and Josef Gecz},
  journal={Journal of medical genetics},
  year={2006},
  volume={43 3},
  pages={238-43}
}
BACKGROUND Börjeson-Forssman-Lehmann syndrome (BFLS; MIM 301900) is an infrequently described X linked disorder caused by mutations in PHF6, a novel zinc finger gene of unknown function. OBJECTIVE To present the results of mutation screening in individuals referred for PHF6 testing and discuss the value of prior X-inactivation testing in the mothers of these individuals. RESULTS 25 unrelated individuals were screened (24 male, one female). Five PHF6 mutations were detected, two of which (c… CONTINUE READING

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