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- Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin
- Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
- A Case of IFAP Syndrome with Severe Atopic Dermatitis
- Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
- Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
- An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery
- Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
- A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
- Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature
- Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
- Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
- Inherited ichthyosis: Syndromic forms
- Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin
- Ichthyosis follicularis with alopecia and photophobia syndrome with coexisting palmoplantar keratoderma treated with acitretin
- Letter from Brisbane [Letters to editor]
- Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man
- A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
- Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
- A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
- A novel <i>MBTPS2</i> variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
- Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities
- Management of congenital ichthyoses: European guidelines of care, part two
- A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
- Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
- Inherited Disorders of the Hair
- 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
- TONGUE, RED
- Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
- Diseases of Periocular Hair
- Androgenic disorders of women: Diagnostic and therapeutic decision making