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This approach turned up several additional families with ASD mutations, including: * An additional family with a recessive mutation in AMT * Two families with recessive mutations in VPS13B(known to cause Cohen syndrome, which includes intellectual disability, obesity, vision and joint problems, and small head size) * A family with a recessive mutation in POMGNT1(known to cause muscle-eye-brain disease, marked by brain malformation, intellectual disability, muscle and vision problems) * A family with an X-linked mutation in MECP2 in two boys (MECP2 mutations are known to cause Rett syndrome in girls, but are typically lethal in boys) "We have textbook descriptions of all these diseases, but in real life, there can be atypical, milder presentations of the same disease," says Yu.
Kinematic analysis of the running pattern of a female with Cohen syndrome.
Cohen Syndrome (Kate Chandler and Jill Clayton-Smith).