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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...
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| Publicado no: | BMC Pulm Med |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6712709/ https://ncbi.nlm.nih.gov/pubmed/31462237 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12890-019-0921-8 |
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