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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 …
Rare SUZ12 variants commonly cause an overgrowth phenotype.
Cyrus SS, Cohen ASA, Agbahovbe R, Avela K, Yeung KS, Chung BHY, Luk HM, Tkachenko N, Choufani S, Weksberg R, Lopez-Rangel E; C.A.U.S.E.S. Study; Brown K, Saenz MS, Svihovec S, McCandless SE, Bird LM, Garcia AG, Gambello MJ, McWalter K, Schnur RE, An J, Jones SJM, Bhalla SK, Pinz H, Braddock SR, Gibson WT. Cyrus SS, et al. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):532-547. doi: 10.1002/ajmg.c.31748. Epub 2019 Nov 17. Am J Med Genet C Semin Med Genet. 2019. PMID: 31736240
Constitutional pathogenic variants in its component proteins have been found to cause two established overgrowth syndromes: Weaver syndrome (EZH2-related overgrowth) and Cohen-Gibson syndrome (EED-related overgrowth). Imagawa et al. (2017) initially reported …
Constitutional pathogenic variants in its component proteins have been found to cause two established overgrowth syndromes: Weaver syndrome …
PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes.
Cyrus S, Burkardt D, Weaver DD, Gibson WT. Cyrus S, et al. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):519-531. doi: 10.1002/ajmg.c.31754. Epub 2019 Nov 14. Am J Med Genet C Semin Med Genet. 2019. PMID: 31724824 Review.
EZH2-associated overgrowth, caused by constitutional heterozygous mutations within Enhancer of Zeste homologue 2 (EZH2), has a phenotypic spectrum ranging from tall stature without obvious intellectual disability or dysmorphic features to classical Weaver syndrome (OMIM #277590). …
EZH2-associated overgrowth, caused by constitutional heterozygous mutations within Enhancer of Zeste homologue 2 (EZH2), has a phenotypic sp …
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 …