Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma

BACKGROUND: Primary congenital glaucoma (PCG) and early onset glaucomas are one of the major causes of children and young adult blindness worldwide. Both autosomal recessive and dominant inheritance have been described with involvement of several genes including CYP1B1, FOXC1, PITX2, MYOC and PAX6....

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Detalles Bibliográficos
Autores principales: Mauri, Lucia, Uebe, Steffen, Sticht, Heinrich, Vossmerbaeumer, Urs, Weisschuh, Nicole, Manfredini, Emanuela, Maselli, Edoardo, Patrosso, Mariacristina, Weinreb, Robert N., Penco, Silvana, Reis, André, Pasutto, Francesca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970237/
https://www.ncbi.nlm.nih.gov/pubmed/27484908
http://dx.doi.org/10.1186/s13023-016-0495-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970237/
https://www.ncbi.nlm.nih.gov/pubmed/27484908
http://dx.doi.org/10.1186/s13023-016-0495-y

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