Literature DB >> 23951433

Genetic basis of Myhre syndrome.

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Abstract

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Year:  2012        PMID： 23951433      PMCID： PMC3727705          DOI： 10.1038/bonekey.2012.29

Source DB:  PubMed          Journal:  Bonekey Rep        ISSN： 2047-6396


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  1 in total

1.  Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.

Authors:  Carine Le Goff; Clémentine Mahaut; Avinash Abhyankar; Wilfried Le Goff; Valérie Serre; Alexandra Afenjar; Anne Destrée; Maja di Rocco; Delphine Héron; Sébastien Jacquemont; Sandrine Marlin; Marleen Simon; John Tolmie; Alain Verloes; Jean-Laurent Casanova; Arnold Munnich; Valérie Cormier-Daire
Journal:  Nat Genet       Date:  2011-12-11       Impact factor: 38.330
  1 in total
  1 in total

1.  Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation.

Authors:  Jinrong Li; Tao Zhu; Sufei Yang; Fan Yang; Jinhui Wu; Fei Xiong
Journal:  Braz J Cardiovasc Surg       Date:  2021-10-17
  1 in total

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