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Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
Thomas-Wilson A, Schacht JP, Chitayat D, Blaser S, Santos FJR, Glaser K, Caffo A, Wentzensen IM, Henderson LB, Zhang F, Zhu Y, Di Corleto E, da Silva Costa F, Vink R, Alkhunaizi E, Russell L, Buckley MF, Roscioli T, Pereira EM, Ganapathi M. Thomas-Wilson A, et al. Among authors: chitayat d. Am J Med Genet A. 2023 Jul;191(7):1935-1941. doi: 10.1002/ajmg.a.63203. Epub 2023 Apr 9. Am J Med Genet A. 2023. PMID: 37031378 Review.
Penoscrotal transposition: a case report and review.
MacKenzie J, Chitayat D, McLorie G, Balfe JW, Pandit PB, Blecher SR. MacKenzie J, et al. Among authors: chitayat d. Am J Med Genet. 1994 Jan 1;49(1):103-7. doi: 10.1002/ajmg.1320490120. Am J Med Genet. 1994. PMID: 8172235 Review.
Limb defects in homozygous alpha-thalassemia: report of three cases.
Chitayat D, Silver MM, O'Brien K, Wyatt P, Waye JS, Chiu DH, Babul R, Thomas M. Chitayat D, et al. Am J Med Genet. 1997 Jan 20;68(2):162-7. doi: 10.1002/(sici)1096-8628(19970120)68:2<162::aid-ajmg8>3.0.co;2-r. Am J Med Genet. 1997. PMID: 9028451
561 results