Carregant...

Novel membrane frizzled-related protein (MFRP) gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds

PURPOSE: We present a genetic and clinical analysis of two sisters, 3 and 4 years of age, with nanophthalmos and macular folds. METHODS: Ophthalmological examination, general pediatric examination and molecular genetic analysis of the MFRP gene were performed in both affected siblings. RESULTS: Clin...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Wasmann, Rosemarie A., Klein Wassink-Ruiter, Jolien S., Sundin, Olof H., Morales, Elisa, Verheij, Joke B.G.M., Pott, Jan-Willem R.
Format: Artigo
Idioma:Inglês
Publicat: 2013
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3773268/
https://ncbi.nlm.nih.gov/pubmed/23742260
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/aos.12105
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!