| 1 | DEL1P36, DUP1P36
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| Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation t(Y;1).
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| Hiraki Y, Fujita H, Yamamori S, Ohashi H, Eguchi M, Harada N, Mizuguchi T, Matsumoto N.
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| Am J Med Genet A 140(16):1773-7. 2006
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| 2 | MMP23A, MMP23B, DEL1P36, DUP1P36
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| Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure.
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| Gajecka M, Yu W, Ballif BC, Glotzbach CD, Bailey KA, Shaw CA, Kashork CD, Heilstedt HA, Ansel DA, Theisen A, Rice R, Rice DP, Shaffer LG.
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| Eur J Hum Genet 13(2):139-49. 2005
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| 3 | DEL1P36, DUP1P36
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| Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype.
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| Tonk VS, Wilson GN, Yatsenko SA, Stankiewicz P, Lupski JR, Schutt RC, Northup JK, Velagaleti GV.
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| Am J Med Genet A 139(2):136-40. 2005
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| 4 | DUP1P36
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| Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis.
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| Heilstedt HA, et al.
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| Clin Genet 56(2):123-8 1999
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