A novel homozygous missense variant identified in the myosin VIIA motor domain of a Moroccan patient with usher syndrome
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Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s11033-024-09603-5.pdf
Reference27 articles.
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3. Reiners J, Nagel-Wolfrum K, Jürgens K, Märker T, Wolfrum U (2006) Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease, Exp. Eye Res., vol. 83, no. 1, pp. 97–119, Jul. https://doi.org/10.1016/j.exer.2005.11.010
4. Fakin A, Jarc-Vidmar M, Glavač D, Bonnet C, Petit C, Hawlina M (2012) Fundus autofluorescence and optical coherence tomography in relation to visual function in Usher syndrome type 1 and 2, Vision Res., vol. 75, pp. 60–70, Dec. https://doi.org/10.1016/j.visres.2012.08.017
5. Loundon N et al (2003) Mar., Usher syndrome and cochlear implantation, Otol. Neurotol. Off. Publ. Am. Otol. Soc. Am. Neurotol. Soc. Eur. Acad. Otol. Neurotol., vol. 24, no. 2, pp. 216–221, https://doi.org/10.1097/00129492-200303000-00015
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