Literature DB >> 2363435

Acheiropodia: report on four new Brazilian patients.

A C Fett-Conte1, A Richieri-Costa.   

Abstract

We report on 4 new patients with acheiropodia ("the handless and footless families of Brazil"). This autosomal recessive condition involves all 4 limbs with a well-defined pattern of defects. Two of the patients described here had a small bone fragment in the upper stumps (Bohomoletz bone), an uncommon finding in acheiropodia.

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Year:  1990        PMID: 2363435     DOI: 10.1002/ajmg.1320360320

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


  1 in total

1.  Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly.

Authors:  Laura A Lettice; Taizo Horikoshi; Simon J H Heaney; Marijke J van Baren; Herma C van der Linde; Guido J Breedveld; Marijke Joosse; Nurten Akarsu; Ben A Oostra; Naoto Endo; Minoru Shibata; Mikio Suzuki; Eiichi Takahashi; Toshikatsu Shinka; Yutaka Nakahori; Dai Ayusawa; Kazuhiko Nakabayashi; Stephen W Scherer; Peter Heutink; Robert E Hill; Sumihare Noji
Journal:  Proc Natl Acad Sci U S A       Date:  2002-05-28       Impact factor: 11.205

  1 in total

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