| 1 | ATP7A, OHS
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| Functional copper transport explains neurologic sparing in occipital horn syndrome.
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| Tang J, Robertson S, Lem KE, Godwin SC, Kaler SG.
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| Genet Med 8(11):711-8.
2006
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| 2 | ATP7A, OHS
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| A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.
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| Dagenais SL, Adam AN, Innis JW, Glover TW.
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| Am J Hum Genet 69(2):420-7. 2001
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| 3 | ATP7A, MNK, OHS
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| Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome.
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| Moller LB, Tumer Z, Lund C, Petersen C, Cole T, Hanusch R, Seidel J, Jensen LR, Horn N.
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| Am J Hum Genet 66(4):1211-20. 2000
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| 4 | ATP7A, OHS
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| Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the Menkes protein and produces the occipital horn syndrome.
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| Qi M, Byers PH.
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| Hum Mol Genet 7(3):465-9. 1998
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| 5 | EDS1A, EDS1B, EDS2, EDS3, EDS4A, EDS6, EDS7A1, EDS7A2, EDS10, OHS
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| Ehlers-Danlos syndromes : revised nosology, Villefranche, 1997.
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| Beighton P, et al.
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| Am J Med Genet 77 : 31-37. 1998
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| 6 | ATP7A, OHS
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| A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.
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| Ronce N, Moizard MP, Robb L, Toutain A, Villard L, Moraine C.
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| Am J Hum Genet 61(1):233-8. No abstract available. 1997
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| 7 | ATP7A, OHS
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| A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome.
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| Levinson B, et al.
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| Hum Mol Genet 5 : 1737-1742. 1996
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| 8 | OHS, MNK, ATP7A
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| Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital Horn syndrome and the blotchy mouse.
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| Das S, et al.
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| Am J Hum Genet 56 : 570-576. 1995
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| 9 | ATP7A, MNK, OHS
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| Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus.
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| Kaler SG, et al.
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| Nat Genet 8 : 195-202. 1994
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| 10 | OHS
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| A skeletal and connective tissue disorder associated with lysyl oxidase deficiency and abnormal copper metabolism.
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| Kaitila II, et al.
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| Skeletal Dysplasias 307-316. 1982
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