| 1 | ANBXL1, ANBXL2
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| Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis.
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| Shackleton C, Marcos J, Malunowicz EM, Szarras-Czapnik M, Jira P, Taylor NF, Murphy N, Crushell E, Gottschalk M, Hauffa B, Cragun DL, Hopkin RJ, Adachi M, Arlt W.
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| Am J Med Genet 128A(3):223-31. 2004
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| 2 | ANBXL1, ANBXL2, FGFR2
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| Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.
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| Kelley RI, Kratz LE, Glaser RL, Netzloff ML, Miller Wolf L, Jabs EW.
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| Am J Med Genet 110(2):95-102. 2002
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| 3 | ANBXL1
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| Evidence for digenic inheritance in some cases of antley-bixler syndrome?
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| Reardon W, Smith A, Honour JW, Hindmarsh P, Das D, Rumsby G, Nelson I, Malcolm S, Ades L, Sillence D, Kumar D, DeLozier-Blanchet C, McKee S, Kelly T, McKeehan WL, Baraitser M, Winter RM.
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| J Med Genet 37(1):26-32 2000
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| 4 | ANBXL1
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| Not Antley-Bixler syndrome.
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| Gripp KW, et al.
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| Am J Med Genet 83(1):65-8. No abstract available 1999
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| 5 | ANBXL1
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| Reply to the letter to the Editor by Gripp et al. - Not Antley-Bixler syndrome.
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| Chitayat D. et al.
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| Am J Med Genet 83 : 67-68. 1999
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| 6 | ANBXL1, FGFR2
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| FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.
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| Chun K, et al.
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| Am J Med Genet 77 : 219-224. 1998
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| 7 | ANBXL1, ANBXL2
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| Antley-Bixler syndrome: case report and review of the literature.
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| Crisponi G, Porcu C, Piu ME.
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| Clin Dysmorphol 6(1):61-8. 1997
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