Glaucoma-causing ADAMTS17 mutations are also reproducibly associated with height in two domestic dog breeds: selection for short stature may have contributed to increased prevalence of glaucoma

BACKGROUND: In humans, ADAMTS17 mutations are known to cause Weill-Marchesani-like syndrome, which is characterised by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. Breed-specific homozygous mutations in ADAMTS17 are associated with primary open angle glaucoma (POAG)...

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Detalles Bibliográficos
Autores principales: Jeanes, Emily C., Oliver, James A. C., Ricketts, Sally L., Gould, David J., Mellersh, Cathryn S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6524303/
https://www.ncbi.nlm.nih.gov/pubmed/31131111
http://dx.doi.org/10.1186/s40575-019-0071-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6524303/
https://www.ncbi.nlm.nih.gov/pubmed/31131111
http://dx.doi.org/10.1186/s40575-019-0071-6

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