Associated Papers
Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.
Bai D et al.
International Journal of Molecular Sciences, 2021
34360596 (PubMed )
Supplement: ijms-22-07832-s001.zip › ijms-1281081_supplemental-tables-June10-2021.pdf
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
Human venous valve disease caused by mutations in FOXC2 and GJC2.
Lyons O et al.
The Journal of Experimental Medicine, 2017
Syndromic and non-syndromic disease-linked Cx43 mutations.
Laird DW
Febs Letters, 2014
A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family.
Brice G et al.
Clinical Genetics, 2013
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