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.63542Scopus ID
2-s2.0-85182427833 (requires institutional sign-in at Scopus site)
2 CitationsAuthor 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