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Pallister-Hall syndrome, GLI3, and kidney malformation.
McClelland K, Li W, Rosenblum ND. McClelland K, et al. Among authors: rosenblum nd. Am J Med Genet C Semin Med Genet. 2022 Sep;190(3):264-278. doi: 10.1002/ajmg.c.31999. Epub 2022 Sep 27. Am J Med Genet C Semin Med Genet. 2022. PMID: 36165461
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
Handrigan GR, Chitayat D, Lionel AC, Pinsk M, Vaags AK, Marshall CR, Dyack S, Escobar LF, Fernandez BA, Stegman JC, Rosenfeld JA, Shaffer LG, Goodenberger M, Hodge JC, Cain JE, Babul-Hirji R, Stavropoulos DJ, Yiu V, Scherer SW, Rosenblum ND. Handrigan GR, et al. Among authors: rosenblum nd. J Med Genet. 2013 Mar;50(3):163-73. doi: 10.1136/jmedgenet-2012-101288. Epub 2013 Jan 18. J Med Genet. 2013. PMID: 23335808
130 results