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August 7, 2002American Journal of Medical Genetics

Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation

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Authors

GTGillian TurnerVictoria University of WellingtonMPM. W. PartingtonUniversity of King's CollegeBKBronwyn KerrMassey University

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Turner et al. (2002) studied this question.

synapsesocial.com/papers/69df2ebb7ae8937562614118https://doi.org/10.1002/ajmg.10714
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1X‐linked mental retardation with dystonic movements of the hands1988 · 61 citations
  2. 2The X‐linked infantile spasms syndrome (Mim 308350) maps to Xp 11.4–Xpter in two pedigrees1997 · 51 citations
  3. 3Non-specific X linked mental retardation.1991 · 69 citations
  4. 4ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation2002 · 290 citations
  5. 5Clinical study and haplotype analysis in two brothers with Partington syndrome2002 · 15 citations