A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (<i>BBS2</i>) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog

A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (<i>BBS2</i>) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog

Canine progressive retinal atrophy (PRA) describes a group of hereditary diseases characterized by photoreceptor cell death in the retina, leading to visual impairment. Despite the identification of multiple PRA-causing variants, extensive heterogeneity of PRA is observed across and within dog breed...

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Detalles Bibliográficos
Autores principales: Rebekkah J. Hitti-Malin, Louise M. Burmeister, Frode Lingaas, Maria Kaukonen, Inka Pettinen, Hannes Lohi, David Sargan, Cathryn S. Mellersh
Formato: article
Lenguaje:EN
Publicado: MDPI AG 2021
Materias:
canine
PRA
retinal degeneration
BBS
<i>BBS2</i>
syndromic
Genetics
QH426-470
Acceso en línea:https://doaj.org/article/3d0629e2e15e4956b71a3bea3c05e7c2
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