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January 1, 2000Annals of Neurology

A nonsense mutation of theATRX gene causing mild mental retardation and epilepsy

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Authors

RGRenzo GuerriniUniversité Claude Bernard Lyon 1JSJennifer L. ShanahanUniversity of OxfordRCRomeo CarrozzoItalian Society of Physiotherapy

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Guerrini et al. (2000) studied this question.

synapsesocial.com/papers/6a6b7db93e46b6df0af30fb6https://doi.org/10.1002/1531-8249(200001)47:1<117::aid-ana20>3.0.co;2-a
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Also Consider

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

  1. 1Non-specific X linked mental retardation.1991 · 68 citations
  2. 2Clinical and hematologic aspects of the X‐linked α‐thalassemia/mental retardation syndrome (ATR‐X)1995 · 152 citations
  3. 3Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect.1993 · 69 citations
  4. 4X‐linked α‐thalassemia/mental retardation (ATR‐X) syndrome: A new kindred with severe genital anomalies and mild hematologic expression1995 · 52 citations
  5. 5Alpha thalassaemia mental retardation (ATR-X): an atypical family.1994 · 8 citations