Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.

Published on IRCCS materno infantile Burlo Garofolo (https://www.burlo.trieste.it)

Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene. [1]

Titolo	Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.
Publication Type	Journal Article
Authors	Faletra, F [2], d'Adamo, AP [3], Bruno, I [4], Athanasakis, E [5], Biskup, S [6], Esposito, L [7], Gasparini, P [8]
PubMed ID	24273071 [9]

Source URL: https://www.burlo.trieste.it/ricerca/pubblicazioni/autosomal-recessive-stickler-syndrome-due-loss-function-mutation-col9a3-gene#comment-0

Collegamenti
[1] https://www.burlo.trieste.it/ricerca/pubblicazioni/autosomal-recessive-stickler-syndrome-due-loss-function-mutation-col9a3-gene
[2] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=407
[3] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=2408
[4] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=511
[5] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=331
[6] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=2499
[7] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=2233
[8] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=211
[9] http://www.ncbi.nlm.nih.gov/pubmed/24273071?dopt=Abstract