Axial spondylometaphyseal dysplasia with retinitis pigmentosa--a clinical report and diagnostic clues.
作者信息
Reinstein Eyal, Okenfuss Ericka B, Wadhawan Isha, Wilnai Yael, Manning Melanie, Rimoin David L, Lachman Ralph S
机构信息
Division of Internal Medicine and Medical Genetics Institute, Rambam Medical Center, Haifa, Israel.
出版信息
J Appl Genet. 2013 May;54(2):231-4. doi: 10.1007/s13353-013-0136-2. Epub 2013 Jan 31.
Abstract
摘要
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本文引用的文献
1
A new form or a variant of SMD type A4.
J Appl Genet. 2012 Aug;53(3):289-94. doi: 10.1007/s13353-012-0094-0. Epub 2012 Apr 24.
2
Axial spondylometaphyseal dysplasia: additional reports.
Am J Med Genet A. 2011 Oct;155A(10):2521-8. doi: 10.1002/ajmg.a.34192. Epub 2011 Sep 9.
3
Nosology and classification of genetic skeletal disorders: 2010 revision.
Am J Med Genet A. 2011 May;155A(5):943-68. doi: 10.1002/ajmg.a.33909. Epub 2011 Mar 15.
4
Spondylometaphyseal dysplasia with cone-rod dystrophy.
Am J Med Genet A. 2011 Apr;155A(4):845-9. doi: 10.1002/ajmg.a.33898. Epub 2011 Mar 15.
5
Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy.
Am J Med Genet A. 2010 Jun;152A(6):1550-4. doi: 10.1002/ajmg.a.33397.
6
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
Am J Hum Genet. 2009 Mar;84(3):307-15. doi: 10.1016/j.ajhg.2009.01.021. Epub 2009 Feb 19.
7
The skeletal dysplasias: clinical-molecular correlations.
Ann N Y Acad Sci. 2007 Nov;1117:302-9. doi: 10.1196/annals.1402.072.
8
The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type.
J Med Genet. 2007 Apr;44(4):e73. doi: 10.1136/jmg.2006.043869.
9
The spondylometaphyseal dysplasias. A tentative classification.
Pediatr Radiol. 1991;21(4):293-7. doi: 10.1007/BF02018629.
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