Associated Papers
Heterozygous GJA1 variants with ocular phenotype: Missense in domain but truncation out of domain.
Li X et al.
Molecular Vision, 2021
Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases.
Kumar V et al.
Case Reports in Ophthalmological Medicine, 2020
32318302 (PubMed )
Supplement: 6535974.f1.xlsx › Sheet1
A novel GJA1 mutation identified by whole exome sequencing in a Chinese family with autosomal dominant syndactyly.
You G et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Syndromic and non-syndromic disease-linked Cx43 mutations.
Laird DW
Febs Letters, 2014
Gap junctions in inherited human disorders of the central nervous system.
Abrams CK et al.
Biochimica Et Biophysica Acta, 2012
A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation.
Jamsheer A et al.
Clinical Genetics, 2010
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