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- Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants
- A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
- Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
- 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
- Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
- Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
- 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
- A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
- 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
- A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation
- Transcriptome Meta-Analysis Confirms the Hidradenitis Suppurativa Pathogenic Triad: Upregulated Inflammation, Altered Epithelial Organization, and Dysregulated Metabolic Signaling
- A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
- A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
- 304 Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation
- Novel de novo pathogenic variant in the <i>ODC1</i> gene in a girl with developmental delay, alopecia, and dysmorphic features
- Four hypotrichosis families with mutations in the gene <i>LSS</i> presenting with and without neurodevelopmental phenotypes
- Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
- 545 Skin Organoids derived from NCSTN mutated patient-induced pluripotent stem cells recapitulate Hidradenitis Suppurativa pathogenic hallmarks
- Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
- PA11 A rare case of a severe papulopustular dermatosis secondary to a germline <i>EGFR</i> mutation
- Multiple facial atrophic scars in childhood
- The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome
- Detection of Type IIHair Keratin Gene in a Family with Monilethrix
- Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?