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Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2011
Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and colobomaGordana Raca, Craig A Jackson, Laimutis Kucinskas, et al.
American Journal of Ophthalmology Case Reports|December 21, 2017
A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomaliesTanya Bardakjian, Max Krall, Di Wu, et al.
European Journal of Human Genetics : EJHG|June 19, 2014
Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesisAlex Choi, Richard Lao, Paul Ling-Fung Tang, et al.
American Journal of Medical Genetics. Part A|February 24, 2011
Grade 1 microtia, wide anterior fontanel and novel type tracheo-esophageal fistula in methimazole embryopathyKaren W Gripp, Ranita Kuryan, Rhonda E Schnur, et al.
Obstetrics and Gynecology|March 3, 2015
Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal MedicineJanice G Edwards, Gerald Feldman, James Goldberg, et al.
American Journal of Medical Genetics. Part A|January 3, 2023
Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosisAmani Albakri, Phattrawan Pisuchpen, Jenina E Capasso, et al.
Ophthalmic Genetics|January 5, 2026
Novel variant in FGFR2 in a family with anterior segment anomaliesGoura Chattannavar, Lorena M Haefeli, Rebecca Procopio, et al.
JIMD Reports|February 23, 2013
Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysisSachiko Nakagawa, Jie Zhan, Wei Sun, et al.
Human Mutation|November 19, 2011
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humansAnne M Slavotinek, Ryan Chao, Tomas Vacik, et al.
American Journal of Medical Genetics. Part A|October 3, 2008
Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughtersAdele Schneider, Tanya M Bardakjian, Jie Zhou, et al.
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