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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2009
Soggetti:
Report
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi