A new form or a variant of SMD type A4-Reference-Cited by-同舟云学术

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A new form or a variant of SMD type A4

Published:2012-04-24 Issue:3 Volume:53 Page:289-294
ISSN:1234-1983
Container-title:Journal of Applied Genetics
language:en
Short-container-title:J Appl Genetics

Author:

Marik Ivo,Hudakova Olga,Petrasova Sarka,Kuszel Lukasz,Czarny-Ratajczak Malwina,Kozlowski Kazimierz

Publisher

Springer Science and Business Media LLC

Subject

Genetics,General Medicine

Link

http://www.springerlink.com/index/pdf/10.1007/s13353-012-0094-0

Reference14 articles.

1. Bastepe M, Raas-Rothschild A, Silver J, Weissman I, Wientroub S, Juppner H, Gillis D (2004) A form of Jansen’s metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation. J Clin Endocrinol Metab 89:3595–3600. doi: 10.1210/jc.2004-0036

2. Campbell JB, Kozlowski K, Lejman T, Sulko J (2000) Jansen type of spondylometaphyseal dysplasia. Skeletal Radiol 29:239–242. doi: 10.1007/s002560050601

3. Czarny-Ratajczak M, Chrzanowska K, Bieganski T, Sulko J, Baranska D, Kocyla-Karczmarewicz E, Kuszel L, Jakubowski L, Niedzielski K, Kozlowski K (2009) Severe neonatal spondylometaphyseal dysplasia in two siblings. Am J Med Genet A 149A(10):2166–2172. doi: 10.1002/ajmg.a.33016

4. Dieux-Coeslier A, Moerman A, Holder M, Boute O, Maroteaux P, Manouvrier S, Le Merrer M (2004) Metaphyseal chondrodysplasia with cone-shaped epiphyses: a specific form involving the lower limbs. Am J Med Genet A 124A(1):60–66. doi: 10.1002/ajmg.a.20411

5. Duetting T, Schulze A, Troeger J, Spranger J (1998) A rare form of spondylometaphyseal dysplasia-type A4. Am J Med Genet 78:61–66. doi: 10.1002/(SICI)1096-8628(19980616)78:1<61::AID-AJMG13>3.0.CO;2-M

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1. Axial spondylometaphyseal dysplasia with retinitis pigmentosa—a clinical report and diagnostic clues;Journal of Applied Genetics;2013-01-31

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