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Research 30 of 679
- Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
- RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development
- DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
- Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
- Resolution of pseudoainhum with acitretin therapy in a patient with palmoplantar keratoderma and congenital alopecia
- Ichthyosis follicularis with alopecia and photophobia syndrome with coexisting palmoplantar keratoderma treated with acitretin
- WOOLY HAIR PALMOPLANTAR KERATODERMA : A CASE REPORT
- Disorders of Keratinization
- Clinical Manifestation and Classification of Japanese patients with Inherited Keratinizing Disorders
- Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
- Keratosis Follicularis Spinulosa Decalvans Associated with Acne Keloidalis Nuchae and Tufted Hair Folliculitis
- A novel mutation in the connexin 26 gene (<i>GJB2</i>) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
- Phenotypic variability associated with<i>WNT10A</i>nonsense mutations
- Expanding the Phenotypic Spectrum of Olmsted Syndrome
- The twisting tale of woolly hair: a trait with many causes
- Pityriasis rubra pilaris: A study evaluating patient quality of life in 2 populations
- Characterizing Disease Features and Other Medical Diagnoses in Patients With Pityriasis Rubra Pilaris
- Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
- Papillon–Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature
- Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
- A newborn presenting with congenital blistering
- Building Models for Keratin Disorders
- Follicular cysts and hyperkeratoses in early mycosis fungoides
- NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
- When Rare Meets Risky: Clouston Syndrome with Cutaneous Squamous Cell Carcinoma
- Ectodermal Dysplasia: Variable Expressions
- Surgical Management of Severe Cicatricial Ectropion Secondary to Pityriasis Rubra Pilaris.
- Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
- Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
- Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity