| 1 | BDMR, DEL2Q37, HDAC4
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| Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome.
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| Morris B, Etoubleau C, Bourthoumieu S, Reynaud-Perrine S, Laroche C, Lebbar A, Yardin C, Elsea SH.
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| Am J Med Genet A 158A(8):2015-20. doi: 10.1002/ajmg.a.35463. Epub 2012 Jun 29. 2012
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| 2 | BDMR, DEL2Q37, HDAC4
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| Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4.
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| Villavicencio-Lorini P, Klopocki E, Trimborn M, Koll R, Mundlos S, Horn D.
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| Eur J Hum Genet ur J Hum Genet. 2012 Nov 28. doi: 10.1038/ejhg.2012.240. [Epub ahead of print] 2012
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| 3 | BDMR, DEL2Q27, HDAC4
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| The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.
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| Leroy C, Landais E, Briault S, David A, Tassy O, Gruchy N, Delobel B, Grégoire MJ, Leheup B, Taine L, Lacombe D, Delrue MA, Toutain A, Paubel A, Mugneret F, Thauvin-Robinet C, Arpin S, Le Caignec C, Jonveaux P, Beri M, Leporrier N, Motte J, Fiquet C, Brichet O, Mozelle-Nivoix M, Sabouraud P, Golovkine N, Bednarek N, Gaillard D, Doco-Fenzy M.
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| Eur J Hum Genet ur J Hum Genet. 2012 Oct 17. doi: 10.1038/ejhg.2012.230. [Epub ahead of print] 2012
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| 4 | BDMR, DEL2Q37, HDAC4, SMS
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| Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems.
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| Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, McLeod DR, Zondag S, Toriello HV, Magenis RE, Elsea SH.
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| Am J Hum Genet 87(2):219-228.PMID: 20691407 2010
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| 5 | BDMR, DEL2Q37, GPR35
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| Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype.
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| Shrimpton AE, Braddock BR, Thomson LL, Stein CK, Hoo JJ.
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| Clin Genet 66(6):537-44. 2004
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| 6 | BDMR, DEL2Q37, GBX2, GPC1, HDLBP, KIF1A
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| Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR.
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| Smith M, Escamilla JR, Filipek P, Bocian ME, Modahl C, Flodman P, Spence MA.
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| Cytogenet Cell Genet 94(1-2):15-22. 2001
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| 7 | BDMR, DEL2Q37
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| Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome.
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| Viot-Szoboszlai G, et al.
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| Clin Genet 53 : 278-280. 1998
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| 8 | BDMR, DEL2Q37
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| A case of Albright's hereditary osteodystrophy-like syndrome complicated by several endocrinopathies : normal Gs alpha gene and chromosome 2q37.
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| Sakaguchi H, et al.
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| J Clin Endocrinol Metab 83 : 1563-1565. 1998
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| 9 | BDMR, DEL2Q37
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| Brachydactyly and mental retardation : an Albright hereditary osteodystrophy-like syndrome localized to 2q37.
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| Wilson LC, et al.
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| Am J Hum Genet 56 : 400-407. 1995
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| 10 | BDMR, DEL2Q37
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| Albright hereditary osteodystrophy and del(2)(q37.3) in four unrelated individuals.
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| Phelan MC, et al.
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| Am J Med Genet 58 : 1-7. 1995
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