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January 1, 2000American Journal of Medical Genetics

Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH

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Authors

CGCyril GoizetEEElsa ExcoffierLTLaurence Taine

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Goizet et al. (2000) studied this question.

synapsesocial.com/papers/6a89b71e1acf8e321fbd6638https://doi.org/10.1002/1096-8628(20001204)96:6<839::aid-ajmg29>3.0.co;2-r
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Also Consider

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

  1. 1Clinical, cytogenetic and molecular characterization of seven patients with deletions of chromosome 22q13.31993 · 125 citations
  2. 2Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q)1988 · 78 citations
  3. 3Two 22q telomere deletions serendipitously detected by FISH.1998 · 82 citations
  4. 4Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion1992 · 65 citations
  5. 5Terminal 22q deletion associated with a partial deficiency of arylsulphatase A.1992 · 30 citations