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- <i>De novo</i> mutations in monilethrix
- Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
- PA11 A rare case of a severe papulopustular dermatosis secondary to a germline <i>EGFR</i> mutation
- PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS)
- Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
- Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata
- Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection
- Acne Syndromes and Mosaicism
- Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
- Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
- The Genetics of Human Skin Disease
- Congenital hair loss disorders: Rare, but not too rare
- Connexin mutations in human disease
- Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer
- The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
- RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
- Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells
- Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
- Gender-Difference in Hair Length as Revealed by Crispr-Based Production of Long-Haired Mice with Dysfunctional FGF5 Mutations
- WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation
- Systematic analysis of somatic mutations driving cancer: uncovering functional protein regions in disease development
- Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
- Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment
- Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color
- Regulation of Receptor Binding Specificity of FGF9 by an Autoinhibitory Homodimerization
- Transglutaminase 3: The Involvement in Epithelial Differentiation and Cancer
- <i>WNT10A</i> , dermatology and dentistry
- Genetics of Structural Hair Disorders
- Adrenal causes of endocrine hypertension in childhood or adolescence
- To grow or not to grow: Hair morphogenesis and human genetic hair disorders