Coats plus

Evidence-based neurology checklist on coats plus: Genetics This is caused by mutations in the CTC1 gene The transmission is autosomal recessive Major features Orthopaedic features Neurological features Radiological features Synonym

Genetics

  • This is caused by mutations in the CTC1 gene
  • The transmission is autosomal recessive 

Major features

Orthopaedic features

Neurological features

Radiological features

Synonym

References

  1. Bertuch AA. The molecular genetics of the telomere biology disorders. RNA Biol 2016; 13:696-706.
  2. Crow YJ, McMenamin J, Haenggeli CA, et al. Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument. Neuropediatrics 2004; 35:10-9.
  3. Savage SA. Beginning at the ends: telomeres and human disease. F1000Res 2018; pii: F1000 Faculty Rev-524.
  4. Ballew BJ, Savage SA. Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev Hematol 2013; 6:327-337.

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