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- Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants
- Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
- A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
- Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
- MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes
- Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
- Disease causing homozygous variants in the human hairless gene
- Identification of a novel<i>PNPLA1</i>mutation in a Spanish family with autosomal recessive congenital ichthyosis
- <i>CCDC47</i> gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
- SnapshotDx Quiz: February 2018
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