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- Folliculitis Decalvans With Frontal Fibrosing Alopecia in a Dark Phototype: Presentation of Folliculitis Decalvans and Lichen Planopilaris Phenotypic Spectrum
- Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
- Spectrum of Phenotypes Associated with Human MC1R Variations
- Expanding the Phenotypic Spectrum of Olmsted Syndrome
- Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review
- Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene
- Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants
- Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
- Clinical Characterization and Treatment Response of Folliculitis Decalvans Lichen Planopilaris Phenotypic Spectrum: A Unicentre Retrospective Series of 31 Patients
- From Misdiagnosis to Targeted Therapy: A Case Report of Folliculitis Decalvans and Lichen Planopilaris Phenotypic Spectrum
- Phenotyping mice with skin, hair, or nail abnormalities: A systematic approach and methodologies from simple to complex
- WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
- A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
- Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield
- De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
- <i>CCDC47</i> gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
- P378: Expanding the phenotype of hyper-IgE syndrome: Heterozygous VUS in IL6ST with elevated serum IgE and isolated abscesses
- Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
- A case of <i>MBTPS1</i>‐related disorder due to compound heterozygous variants in <i>MBTPS1</i> gene: Genotype–phenotype expansion and the emergence of a novel syndrome
- Multi-omics empowered deep phenotyping of ulcerative colitis
- Autosomal recessive monilethrix: Novel variants of the <i>DSG4</i> gene in three Chinese families
- Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
- Proteomics Characterization of Primary Human Oral Epithelial Cells Using a Novel Culture Technique for Use in Tissue Regeneration
- Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
- Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
- Persistently curly hair phenotype with the use of nivolumab for squamous cell lung cancer
- Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
- A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
- Molecular genetics of androgen insensitivity
- Disorders of Keratinization