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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में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: 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.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Elsevier 2009
विषय:
Report
ऑनलाइन पहुंच: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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