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Research 31–60 of 43
- Inherited Disorders of the Hair
- Pathogenesis and management of TRPV3-related Olmsted syndrome
- Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
- Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
- Subject Index
- Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin
- A Rare Case of Keratosis Follicularis Spinulosa Decalvans Affecting a Female Child
- Table_1_Bioinformatics and Network Pharmacology Identify the Therapeutic Role and Potential Mechanism of Melatonin in AD and Rosacea.xlsx
- An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery
- Primary cicatricial alopecia: Recent advances in understanding and management
- Localisation and regulation of cholesterol transporters in the human hair follicle: mapping changes across the hair cycle
- Cicatricial Alopecia
- Clinicopathologic and trichoscopic features of keratosis follicularis spinulosa decalvans: A case series study
- Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
- A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
- 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
- To grow or not to grow: Hair morphogenesis and human genetic hair disorders
- Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities
- Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
- A Case of IFAP Syndrome with Severe Atopic Dermatitis
- A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
- Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
- Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature
- Letter from Brisbane [Letters to editor]
- A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
- Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
- Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
- A novel <i>MBTPS2</i> variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
- Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
- 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