Associated Papers
A rare case of LORICRIN gene c.684dup mutation associated with Vohwinkel syndrome in a Turkish patient, in silico analysis and literature review.
Yavas C et al.
Molecular Biology Reports, 2025
Genetic Analysis of Familial Developmental Dysplasia of the Hip Associated With a Heterozygous Variant in the COMP Gene: A Case Report.
Miao Y et al.
Molecular Genetics & Genomic Medicine, 2025
40985600 (PubMed )
Supplement: MGG3-13-e70135-s001.zip › Supplemental_Materials_2 › father.xlsx › Sheet1
The c.323 G>C mutation in LORICRIN causes new-found late-onset autosomal dominant loricrin keratoderma in a Chinese Han Pedigree.
Gao X et al.
Journal of Dermatological Science, 2022
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_4
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