| 1 | ADAMTS18, MMCAT
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| Expansion of ocular phenotypic features associated with mutations in ADAMTS18.
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| Chandra A, Arno G, Williamson K, Sergouniotis PI, Preising MN, Charteris DG, Thompson DA, Holder GE, Borman AD, Davagnanam I, Webster AR, Lorenz B, FitzPatrick DR, Moore AT.
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| JAMA Ophthalmol 132(8):996-1001. doi: 10.1001/jamaophthalmol.2014.940. Erratum in: JAMA Ophthalmol. 2014 Sep;132(9):1153. 2014
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| 2 | ADAMTS18, MMCAT
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| The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18.
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| Aldahmesh MA, Alshammari MJ, Khan AO, Mohamed JY, Alhabib FA, Alkuraya FS.
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| Hum Mutat 34(9):1195-9. doi: 10.1002/humu.22374. 2013
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| 3 | ADAMTS18, MMCAT
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| Identification of ADAMTS18 as a gene mutated in Knobloch syndrome.
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| Aldahmesh MA, Khan AO, Mohamed JY, Alkuraya H, Ahmed H, Bobis S, Al-Mesfer S, Alkuraya FS.
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| J Med Genet 48(9):597-601. 2011
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