Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report

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 of this s...

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Detalles Bibliográficos
Autores principales: Valencia-Peña, Claudia, Jiménez-Sanchez, Paula, Saldarriaga, Wilmar, Payán-Gómez, César
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7433184/
https://www.ncbi.nlm.nih.gov/pubmed/32807111
http://dx.doi.org/10.1186/s12886-020-01603-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7433184/
https://www.ncbi.nlm.nih.gov/pubmed/32807111
http://dx.doi.org/10.1186/s12886-020-01603-w

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