Ophthalmic and molecular genetic findings in Kniest dysplasia

PURPOSE: To study the variability of the ophthalmic phenotype in Kniest dysplasia. Kniest dysplasia is an inherited disorder associated with defects in type II collagen and characterised by short-trunked dwarfism, kyphoscoliosis, and enlarged joints with restricted mobility. Other features include m...

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Guardat en:
Dades bibliogràfiques
Publicat a:Eye (Lond)
Autors principals: Sergouniotis, P I, Fincham, G S, McNinch, A M, Spickett, C, Poulson, A V, Richards, A J, Snead, M P
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2015
Matèries:
Clinical Study
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4816360/
https://ncbi.nlm.nih.gov/pubmed/25592122
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/eye.2014.334
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