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March 1, 1993American Journal of Medical Genetics

New X‐linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death

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Authors

KGKarl‐Henrik GustavsonUppsala UniversityGAGöran AnnerénUppsala UniversityHMHelena MalmgrenKarolinska University Hospital

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Gustavson et al. (1993) studied this question.

synapsesocial.com/papers/6a8ae146de5ec4e001e3a8cehttps://doi.org/10.1002/ajmg.1320450527
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Also Consider

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

  1. 1Börjeson‐Forssman‐Lehmann syndrome: Clinical manifestations and gene localization to Xq26‐271989 · 71 citations
  2. 2A new X‐linked multiple congenital anomalies/ mental retardation syndrome1984 · 43 citations
  3. 3A newly defined X linked mental retardation syndrome associated with alpha thalassaemia.1991 · 73 citations
  4. 4A new X‐linked syndrome comprising progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness1984 · 32 citations
  5. 5Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes.1967 · 971 citations