| 1 | ACSL4, AMME, ATS1
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| Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3.
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| Rodriguez JD, Bhat SS, Meloni I, Ladd S, Leslie ND, Doyne EO, Renieri A, Dupont BR, Stevenson RE, Schwartz CE, Srivastava AK.
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| Am J Med Genet A 152A(3):713-7.PMID: 20186809 2010
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| 2 | AMME, COL4A5
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| Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR).
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| Meloni I, Vitelli F, Pucci L, Lowry RB, Tonlorenzi R, Rossi E, Ventura M, Rizzoni G, Kashtan CE, Pober B, Renieri A.
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| J Med Genet 39(5):359-65. No abstract available. 2002
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| 3 | AMME, AMMECR1
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| Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome.
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| Vitelli F, et al.
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| Genomics 55(3):335-40. 1999
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| 4 | AMME, KCNE1L
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| KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterization of the human and mouse homologs.
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| Piccini M, et al.
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| Genomics 60(3):251-7 1999
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| 5 | AMME
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| Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis : a new X linked contiguous gene deletion syndrome?
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| Jonsson JJ, et al.
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| J Med Genet 35 : 273-278. 1998
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