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Mutations in FRMD7 are associated with X-linked congenital nystagmus.
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These results enriched the gene mutation spectrum of FRMD7.
infantile nystagmus syndrome with FRMD7 mutations in our cases was caused primarily de novo and missense mutations
Our findings provide further insights into FRMD7 mutations, which could be helpful for future genetic diagnosis and genetic counselling of Chinese patients with nystagmus.
We also demonstrated abnormal developments of afferent system in patients with FRMD7 mutations using optical coherence tomography, which may help to understand the etiological factor in development of nystagmus
this study adds a novel mutation (p.I240T) to the existing spectrum of FRMD7 mutations with Congenital, X-Linked Nystagmus.
we report three novel mutations in FRMD7 in three independent families with XLICN, and provide molecular insights for future XLICN diagnosis and treatment.
a novel mutation c.556A>G (p.M186V) in the gene FRMD7 causes X-linked idiopathic congenital nystagmus in a North Indian family
We investigated the role of mutations and copy number variations (CNV) of FRMD7 and GPR143 (zeige GPR143 Proteine) in the molecular pathogenesis of IIN in 49 unrelated Belgian probands.
Abnormal retinal development is associated with FRMD7 mutations.
A nonsense mutation (R335X) in the FRMD7 gene was identified in 4 male patients and an asymptomatic female member.
FRMD7 as a key regulator in establishing a neuronal circuit asymmetry
A novel splice variant of FRMD7 (FRMD7-S) with a shortened exon 4 relative to the original form of FRMD7 (FRMD7-FL) was identified from the cDNA of the human NT2 cell line and mouse fetal brain.
FRMD7 expression is spatially and temporally regulated in human and mouse brain during embryonic and fetal development.
Mutations in this gene are associated with X-linked congenital nystagmus.
FERM domain-containing protein 7