Literature DB >> 10905898

Anticipation in progressive diaphyseal dysplasia.

J M Saraiva.   

Abstract

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Year:  2000        PMID： 10905898      PMCID： PMC1734592          DOI： 10.1136/jmg.37.5.394

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  6 in total

1.  Orthopaedic. Radiology. Pathology Conference: Bilateral leg pain in a 4-year-old girl.

Authors:  Aaron Babb; Walter O Carlson
Journal:  Clin Orthop Relat Res       Date:  2008-06-20       Impact factor: 4.176

Review 2.  Camurati-Engelmann Disease.

Authors:  Wim Van Hul; Eveline Boudin; Filip M Vanhoenacker; Geert Mortier
Journal:  Calcif Tissue Int       Date:  2019-02-05       Impact factor: 4.333

3.  Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand.

Authors:  Michael P Whyte; William G Totty; Deborah V Novack; Xiafang Zhang; Deborah Wenkert; Steven Mumm
Journal:  J Bone Miner Res       Date:  2011-05       Impact factor: 6.741

4.  Camurati-engelmann disease association with hypogonadism and primary hypothyroidism.

Authors:  Soo Fin Low; Norzailin Abu Bakar; Chai Soon Ngiu
Journal:  Iran Red Crescent Med J       Date:  2014-08-01       Impact factor: 0.611

5.  Clinical characteristics and identification of a novel TGFB1 variant in three unrelated Chinese families with Camurati-Engelmann disease.

Authors:  Xiao-Hui Tao; Xing-Guang Yang; Zi-Yuan Wang; Yang Xu; Xiao-Yun Lin; Tian Xu; Zhen-Lin Zhang; Hua Yue
Journal:  Mol Genet Genomic Med       Date:  2022-03-21       Impact factor: 2.473

6.  The first Korean case of Camurati-Engelmann disease (progressive diaphyseal dysplasia) confirmed by TGFB1 gene mutation analysis.

Authors:  Seo-Jin Park; Choon Sik Yoon; Hui-Wan Park; Jong Rak Choi; Jong Shin Chung; Kyung-A Lee
Journal:  J Korean Med Sci       Date:  2009-07-30       Impact factor: 2.153
  6 in total

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