| 1 | MMDL, SHOX
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| Compound heterozygosity of SHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD).
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| Campos-Barros A, Benito-Sanz S, Ross JL, Zinn AR, Heath KE.
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| Am J Med Genet A 143(9):933-8. 2007
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| 2 | SHOX, DCS, MMDL
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| Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer.
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| Fukami M, Okuyama T, Yamamori S, Nishimura G, Ogata T.
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| Am J Med Genet A 137(1):72-6. Review. 2005
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| 3 | SHOX, DCS, GCX, MMDL
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| A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.
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| Benito-Sanz S, Thomas NS, Huber C, Del Blanco DG, Aza-Carmona M, Crolla JA, Maloney V, Argente J, Campos-Barros A, Cormier-Daire V, Heath KE.
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| Am J Hum Genet 77(4):533-44. Epub 2005 Aug 15. 2005
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| 4 | MMDL, SHOX
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| Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation.
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| Shears DJ, Guillen-Navarro E, Sempere-Miralles M, Domingo-Jimenez R, Scambler PJ, Winter RM.
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| Am J Med Genet 110(2):153-7. 2002
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| 5 | MMDL, SHOX
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| Complete SHOX deficiency causes Langer mesomelic dysplasia.
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| Zinn AR, Wei F, Zhang L, Elder FF, Scott CI Jr, Marttila P, Ross JL.
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| Am J Med Genet 110(2):158-63. 2002
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| 6 | DCS, GCX, MMDL, SHOX, XXX
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| SHOX haploinsufficiency and overdosage: impact of gonadal function status.
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| Ogata T, Matsuo N, Nishimura G.
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| J Med Genet 38(1):1-6. 2001
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| 7 | SHOX, MMDL, TS, DCS
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| Phenotypes Associated with SHOX Deficiency.
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| Ross JL, Scott C Jr, Marttila P, Kowal K, Nass A, Papenhausen P, Abboudi J, Osterman L, Kushner H, Carter P, Ezaki M, Elder F, Wei F, Chen H, Zinn AR.
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| J Clin Endocrinol Metab 86(12):5674-80. 2001
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| 8 | MMDL, SHOX
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| Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia.
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| Robertson SP, Shears DJ, Oei P, Winter RM, Scambler PJ, Aftimos S, Savarirayan R.
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| J Med Genet 37(12):959-64. No abstract available. 2000
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| 9 | DCS, MMDL, SHOX
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| SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).
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| Belin V, et al.
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| Nat Genet 19 : 67-69. 1998
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