Literature DB >> 1642282

History of C-patient with SC-Roberts/pseudothalidamide syndrome.

M Feingold.   

Abstract

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Year:  1992        PMID： 1642282     DOI： 10.1002/ajmg.1320430532

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  2 in total

1.  Long-term survival after corrective surgeries in two patients with severe deformities due to Roberts syndrome: A Case report and review of the literature.

Authors:  Jing Zhou; Xiaonan Yang; Xiaolei Jin; Zhenhua Jia; Haibin Lu; Zuoliang Qi
Journal:  Exp Ther Med       Date:  2017-12-05       Impact factor: 2.447

2.  Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.

Authors:  Birgitt Schüle; Angelica Oviedo; Kathreen Johnston; Shashidhar Pai; Uta Francke
Journal:  Am J Hum Genet       Date:  2005-10-31       Impact factor: 11.025
  2 in total

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