Literature DB >> 3688036

Tibial aplasia-ectrodactyly as variant expression of the Gollop-Wolfgang complex: report of a Brazilian family.

A Richieri-Costa1, D Brunoni, J Laredo Filho, S Kasinski.   

Abstract

We report on a consanguineous Brazilian couple whose 2 children had tibial aplasia-ectrodactyly. Femoral bifurcation was present in one of the affected children. The relationship of tibial aplasia-ectrodactyly to the Gollop-Wolfgang complex is discussed. Clinical and genetic aspects of the conditions involving tibial aplasia and femoral bifurcation are discussed.

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Year:  1987        PMID： 3688036     DOI： 10.1002/ajmg.1320280424

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


  4 in total

1.  Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.

Authors:  Sajid Malik; Ferda E Percin; Dorothea Bornholdt; Beate Albrecht; Antonio Percesepe; Manuela C Koch; Antonio Landi; Barbara Fritz; Rizwan Khan; Sara Mumtaz; Nurten A Akarsu; Karl-Heinz Grzeschik
Journal:  Am J Hum Genet       Date:  2014-11-13       Impact factor: 11.025

2.  A pair of sibs with tibial hemimelia born to phenotypically normal parents.

Authors:  Juntaro Matsuyama; Akihiko Mabuchi; Junwei Zhang; Aritoshi Iida; Toshiyuki Ikeda; Mamori Kimizuka; Shiro Ikegawa
Journal:  J Hum Genet       Date:  2003-03-11       Impact factor: 3.172

3.  A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3.

Authors:  Karina Lezirovitz; Sylvia Regina Pedrosa Maestrelli; Nelson Henderson Cotrim; Paulo A Otto; Peter L Pearson; Regina Celia Mingroni-Netto
Journal:  Hum Genet       Date:  2008-05-21       Impact factor: 4.132

4.  SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably.

Authors:  Ewelina Bukowska-Olech; Anna Sowińska-Seidler; Jolanta Wierzba; Aleksander Jamsheer
Journal:  Orphanet J Rare Dis       Date:  2022-08-26       Impact factor: 4.303
  4 in total

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