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Research 30 of 43
- A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
- Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
- Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
- Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
- 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
- Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
- To grow or not to grow: Hair morphogenesis and human genetic hair disorders
- A novel <i>MBTPS2</i> variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
- A Case of IFAP Syndrome with Severe Atopic Dermatitis
- Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities
- 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 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
- 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
- Localisation and regulation of cholesterol transporters in the human hair follicle: mapping changes across the hair cycle
- Primary cicatricial alopecia: Recent advances in understanding and management
- An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery
- Subject Index
- Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
- Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V
- Inherited ichthyoses/generalized Mendelian disorders of cornification
- Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
- A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
- Pathogenesis and management of TRPV3-related Olmsted syndrome
- Hypotrichosis in a child with olmsted syndrome
- Keratosis follicularis spinulosa decalvans in a female