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Bannayan-Riley-Ruvalcaba syndrome.
Gorlin RJ, Cohen MM Jr, Condon LM, Burke BA. Gorlin RJ, et al. Among authors: burke ba. Am J Med Genet. 1992 Oct 1;44(3):307-14. doi: 10.1002/ajmg.1320440309. Am J Med Genet. 1992. PMID: 1336932
Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK): new X-linked syndrome?
Reish O, Gorlin RJ, Hordinsky M, Rest EB, Burke B, Berry SA. Reish O, et al. Am J Med Genet. 1997 Feb 11;68(4):386-90. doi: 10.1002/(sici)1096-8628(19970211)68:4<386::aid-ajmg2>3.0.co;2-k. Am J Med Genet. 1997. PMID: 9021007
106 results