Literature DB >> 4009643

A new brachydactyly syndrome with similarities to Julia Bell types B and E.

P Pitt, I Williams.   

Abstract

We report a family with some of the features of both types B and E Julia Bell brachydactyly. We feel therefore that this family may constitute a new syndrome and we would like to name this after the family involved, the Ballard syndrome.

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Mesh：

Year:  1985        PMID： 4009643      PMCID： PMC1049425          DOI： 10.1136/jmg.22.3.202

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


  2 in total

1.  Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation.

Authors:  Y Gong; D Chitayat; B Kerr; T Chen; R Babul-Hirji; A Pal; M Reiss; M L Warman
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

Review 2.  Brachydactyly.

Authors:  Samia A Temtamy; Mona S Aglan
Journal:  Orphanet J Rare Dis       Date:  2008-06-13       Impact factor: 4.123
  2 in total

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