Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene

We describe a recessively inherited frontonasal malformation characterized by a distinctive facial appearance, with hypertelorism, wide nasal bridge, short nasal ridge, bifid nasal tip, broad columella, widely separated slit-like nares, long philtrum with prominent bilateral swellings, and midline n...

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Detalhes bibliográficos
Main Authors: Twigg, Stephen R.F., Versnel, Sarah L., Nürnberg, Gudrun, Lees, Melissa M., Bhat, Meenakshi, Hammond, Peter, Hennekam, Raoul C.M., Hoogeboom, A. Jeannette M., Hurst, Jane A., Johnson, David, Robinson, Alexis A., Scambler, Peter J., Gerrelli, Dianne, Nürnberg, Peter, Mathijssen, Irene M.J., Wilkie, Andrew O.M.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2009
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2681074/
https://ncbi.nlm.nih.gov/pubmed/19409524
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.04.009
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