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Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.
Nriagu BN, Williams LS, Brewer N, Surrey LF, Srinivasan AS, Li D, Britt A, Treat J, Crowley TB, O'Connor N, Ganguly A, Low D, Queenan M, Drivas TG, Zackai EH, Adams DM, Hakonarson H, Snyder KM, Sheppard SE. Nriagu BN, et al. Among authors: zackai eh. Am J Med Genet A. 2024 Jan;194(1):64-69. doi: 10.1002/ajmg.a.63385. Epub 2023 Sep 13. Am J Med Genet A. 2024. PMID: 37705207 Free PMC article.
Neuropsychiatry of 18q- syndrome.
Mahr RN, Moberg PJ, Overhauser J, Strathdee G, Kamholz J, Loevner LA, Campbell H, Zackai EH, Reber ME, Mozley DP, Brown L, Turetsky BI, Shapiro RM. Mahr RN, et al. Among authors: zackai eh. Am J Med Genet. 1996 Apr 9;67(2):172-8. doi: 10.1002/(SICI)1096-8628(19960409)67:2<172::AID-AJMG7>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8723044
What's in a name? The 22q11.2 deletion.
McDonald-McGinn DM, Zackai EH, Low D. McDonald-McGinn DM, et al. Among authors: zackai eh. Am J Med Genet. 1997 Oct 17;72(2):247-9. Am J Med Genet. 1997. PMID: 9382154 No abstract available.
Omodysplasia: an affected mother and son.
Venditti CP, Farmer J, Russell KL, Friedrich CA, Alter C, Canning D, Whitaker L, Mennuti MT, Driscoll DA, Zackai EH. Venditti CP, et al. Among authors: zackai eh. Am J Med Genet. 2002 Aug 1;111(2):169-77. doi: 10.1002/ajmg.10555. Am J Med Genet. 2002. PMID: 12210345 Review.
Autoimmune disorders in Kabuki syndrome.
Ming JE, Russell KL, McDonald-McGinn DM, Zackai EH. Ming JE, et al. Among authors: zackai eh. Am J Med Genet A. 2005 Jan 30;132A(3):260-2. doi: 10.1002/ajmg.a.30332. Am J Med Genet A. 2005. PMID: 15523604
550 results