Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families.

@article{Chabrol2005DelineationOT,
  title={Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families.},
  author={Brigitte Chabrol and Nadine Girard and Karine N'guyen and Andr{\'e} G{\'e}rard and Mich{\`e}le Carlier and Laurent Villard and Nicole Philip},
  journal={American journal of medical genetics. Part A},
  year={2005},
  volume={138 4},
  pages={314-7}
}
Recent reports have demonstrated that mutations in the OPHN1 gene were responsible for a syndromic rather than non-specific mental retardation. Abnormalities of the posterior fossa with cerebellar hypoplasia have been demonstrated in all male patients reported to date. We report here a new family with X-linked mental retardation due to mutation in OPHN1 and present unpublished data about two families previously reported, concerning the facial and psychological phenotype of affected males and… CONTINUE READING

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