Female infant with apert syndrome and high imperforate anus without fistula
Apert syndrome (AS) is a rare type of congenital craniofacial dysmorphic and severe syndactyly of the hands and feet. Fibroblast growth factor receptor (FGFR) gene mutations are suspect to be involved in this anomaly. The distinct features are craniosynostosis-a condition of premature closure of sku...
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| Auteurs principaux: | , , , |
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| Format: | article |
| Langue: | EN |
| Publié: |
Elsevier
2021
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| Sujets: | |
| Accès en ligne: | https://doaj.org/article/34d4a687f6b44b4d85285c5f7d037b84 |
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