Cohen-Gibson syndrome

Definition:

Cohen-Gibson syndrome (COGIS) is an overgrowth syndrome caused by mutations in EED. Patients are with overgrowth, facial dysmorphism and intellectual disability. EED is a member of the polycomb repressive complex 2 (PRC2) that maintains gene silencing.

References:

[1]. Ana S A Cohen, et al. A novel mutation in EED associated with overgrowth. J Hum Genet. 2015 Jun;60(6):339-42. [Content Brief]

[2]. Ana Sa Cohen, et al. EED-associated overgrowth in a second male patient. J Hum Genet. 2016 Sep;61(9):831-4. [Content Brief]

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