| 1 | HMMS, IRX3, IRX5
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| Loss of Iroquois homeobox transcription factors 3 and 5 in osteoblasts disrupts cranial mineralization.
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| Cain CJ, Gaborit N, Lwin W, Barruet E, Ho S, Bonnard C, Hamamy H, Shboul M, Reversade B, Kayserili H, Bruneau BG, Hsiao EC.
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| Bone Rep 5:86-95. doi: 10.1016/j.bonr.2016.02.005. eCollection 2016 Dec.
2016
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| 2 | GATA3, HMMS, TRPS1
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| Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.
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| Bonnard C, Strobl AC, Shboul M, Lee H, Merriman B, Nelson SF, Ababneh OH, Uz E, Güran T, Kayserili H, Hamamy H, Reversade B.
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| Nat Genet 44(6):709-13. doi: 10.1038/ng.2259.
2012
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| 3 | HMMS
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| Severe hypertelorism, midface prominence, prominent/simple ears, severe myopia, borderline intelligence, and bone fragility in two brothers: new syndrome?
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| Hamamy HA, Teebi AS, Oudjhane K, Shegem NN, Ajlouni KM.
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| Am J Med Genet A 143A(3):229-34.
2007
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