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Laryngo-tracheal stenosis in a woman with ablepharon macrostomia syndrome
BACKGROUND: Ablepharon macrostomia syndrome (AMS) is a rare congenital malformation disorder caused by the autosomal-dominant mutations in gene TWIST2. Patients affected by the disease present abnormalities in ectoderm-derived structures mainly consisting in major facial dysmorphic features and rare...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6712709/ https://www.ncbi.nlm.nih.gov/pubmed/31462237 http://dx.doi.org/10.1186/s12890-019-0921-8 |