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Last Updated: 10/31/2025
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Found 51 publications
Variants in KLF4 affecting residue Asp441 cause an autosomal dominant syndromic ichthyosis.
Journal: The British journal of dermatology
Published: December 01, 2024
TRPV3 Mutation-Associated Olmsted Syndrome in a Hispanic Patient: Response to Erlotinib and Review of Literature.
Journal: Pediatric dermatology
Published: October 25, 2024
Olmsted Syndrome in a 12-year-old Filipino Male: A Case Report and Future Directions.
Journal: Acta medica Philippina
Published: October 21, 2024
Erlotinib therapy for Olmsted syndrome with p.L655P missense mutation in the TRPV3 gene: a case report.
Journal: Frontiers in medicine
Published: October 17, 2024
Pathogenesis and management of TRPV3-related Olmsted syndrome.
Journal: Frontiers in genetics
Published: July 03, 2024
Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma.
Journal: Frontiers in oncology
Published: April 20, 2024
A case of acrodermatitis enteropathica mimicking mutilating palmoplantar keratoderma.
Journal: Indian journal of dermatology
Published: November 17, 2022
Two for two: Dual therapy with erlotinib and acitretin for twins with severe keratoderma in Olmsted syndrome.
Journal: Pediatric dermatology
Published: September 29, 2022
An intronic splice-site variant in MBTPS2 underlies ichthyosis follicularis with atrichia and photophobia syndrome.
Journal: The Journal of dermatology
Published: June 09, 2022
Case of Olmsted Syndrome with Essential Thrombocytosis Misdiagnosed as Acrodermatitis Enteropathica.
Case of Olmsted Syndrome with Essential Thrombocytosis Misdiagnosed as Acrodermatitis Enteropathica.
Journal: Indian journal of dermatology
Published: January 24, 2022
Ichthyosis, psoriasiform dermatitis, and recurrent fungal infections in patients with biallelic mutations in PERP.
Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: September 13, 2021
Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes.
Journal: The Journal of investigative dermatology
Published: February 18, 2020
Last Updated: 10/31/2025