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Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome).
Hetzelt KLML, Winterholler M, Kerling F, Rauch C, Ekici AB, Winterpacht A, Vasileiou G, Uebe S, Thiel CT, Kraus C, Reis A, Zweier C. Hetzelt KLML, et al. Am J Med Genet A. 2022 Jan;188(1):292-297. doi: 10.1002/ajmg.a.62496. Epub 2021 Sep 17. Am J Med Genet A. 2022. PMID: 34533271 Free article.
Cohen-Gibson syndrome is a rare genetic disorder, characterized by fetal or early childhood overgrowth and mild to severe intellectual disability. ...Furthermore, they indicate a possible association between Cohen-Gibson syndrome and epil …
Cohen-Gibson syndrome is a rare genetic disorder, characterized by fetal or early childhood overgrowth and mild to seve …
EED related overgrowth: First report of multiple members in a single family.
Goel H, O'Donnell S, Edwards M. Goel H, et al. Am J Med Genet A. 2024 Feb;194(2):374-382. doi: 10.1002/ajmg.a.63438. Epub 2023 Oct 16. Am J Med Genet A. 2024. PMID: 37840385
All three affected members manifested very similarly, and this represents a homogenous clinical phenotype associated with EED related intellectual disability and overgrowth. This disorder is appropriately called Cohen-Gibson syndrome....
All three affected members manifested very similarly, and this represents a homogenous clinical phenotype associated with EED related intell …