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Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome American Journal of Medical Genetics, Part A May 2024;194(5)

Date

05/01/2024

DOI

10.1002/ajmg.a.63542

Scopus ID

2-s2.0-85182427833 (requires institutional sign-in at Scopus site)   1 Citation

Author List

Farris J, Khanna C, Smadbeck JB, Johnson SH, Bothun E, Kaplan T, Hoffman F, Polonis K, Oliver G, Reis LM, Semina EV, Rust L, Hoppman NL, Vasmatzis G, Marcou CA, Schimmenti LA, Klee EW

Author

Elena V. Semina PhD Chief, Professor in the Ophthalmology and Visual Sciences department at Medical College of Wisconsin