Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

BACKGROUND: The Pierre Robin sequence (PRS), consisting of cleft palate, micrognathia and glossoptosis, can be seen as part of the phenotype in other Mendelian syndromes—for instance, campomelic dysplasia (CD) which is caused by SOX9 mutations—but the aetiology of non‐syndromic PRS has not yet been...

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Detalhes bibliográficos
Main Authors: Jakobsen, Linda P, Ullmann, Reinhard, Christensen, Steen B, Jensen, Karl Erik, Mølsted, Kirsten, Henriksen, Karen F, Hansen, Claus, Knudsen, Mary A, Larsen, Lars A, Tommerup, Niels, Tümer, Zeynep
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
Assuntos:
Letter to JMG
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2740883/
https://ncbi.nlm.nih.gov/pubmed/17551083
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.046177
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