Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report
Abstract Background 22q11.2 duplication syndrome (Dup22q11.2) has reduced penetrance and variable expressivity. Those affected may have intellectual disabilities, dysmorphic facial features, and ocular alterations such as ptosis, hypertelorism, nystagmus, and chorioretinal coloboma. The prevalence o...
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| Autors principals: | , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMC
2020-08-01
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| Col·lecció: | BMC Ophthalmology |
| Matèries: | |
| Accés en línia: | http://link.springer.com/article/10.1186/s12886-020-01603-w |
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