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Dominant Stickler Syndrome

The Stickler syndromes are a group of genetic connective tissue disorders associated with an increased risk of rhegmatogenous retinal detachment, deafness, cleft palate, and premature arthritis. This review article focuses on the molecular genetics of the autosomal dominant forms of the disease. Pat...

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Detalles Bibliográficos
Autores principales: Soh, Zack, Richards, Allan J., McNinch, Annie, Alexander, Philip, Martin, Howard, Snead, Martin P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9222743/
https://www.ncbi.nlm.nih.gov/pubmed/35741851
http://dx.doi.org/10.3390/genes13061089