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Page 1
Aetiology of infantile nystagmus.
Gottlob I, Proudlock FA. Gottlob I, et al. Curr Opin Neurol. 2014 Feb;27(1):83-91. doi: 10.1097/WCO.0000000000000058. Curr Opin Neurol. 2014. PMID: 24346039 Review.
A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family.
Chen J, Wei Y, Tian L, Kang X. Chen J, et al. BMC Med Genet. 2019 Jan 7;20(1):5. doi: 10.1186/s12881-018-0720-8. BMC Med Genet. 2019. PMID: 30616528 Free PMC article.
In this study, we explored the mutation in the FERM domain-containing 7 (FRMD7) gene in a Chinese family with X-linked infantile nystagmus. METHODS: We conducted comprehensive ocular examinations and collected 5 ml of blood samples from members of a fa …
In this study, we explored the mutation in the FERM domain-containing 7 (FRMD7) gene in a Chinese family with X-linked infa …
42 results