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 severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation.
Jamsheer A et al.
Clinical Genetics, 2010
Select a paper to view details