Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome.
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.
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Am J Med Genet A. 2024 May;194(5):e63542. doi: 10.1002/ajmg.a.63542. Epub 2024 Jan 17.
Am J Med Genet A. 2024.
PMID: 38234180