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Human Molecular Genetics|November 20, 2012
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1Anne M Slavotinek, Pavni Mehrotra, Irina Nazarenko, et al.
Orphanet Journal of Rare Diseases|May 23, 2013
Olmsted syndrome: exploration of the immunological phenotypeDina Danso-Abeam, Jianguo Zhang, James Dooley, et al.
The Journal of Allergy and Clinical Immunology|January 15, 2017
Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signalingIsabelle Melki, Yoann Rose, Carolina Uggenti, et al.
The British Journal of Dermatology|April 7, 2025
Management of congenital ichthyoses: Guidelines of care: Part Two: 2024 UpdateJuliette Mazereeuw-Hautier, Amy S Paller, Edel O'Toole, et al.
The British Journal of Dermatology|April 10, 2024
Paediatric-onset lymphomatoid papulosis: results of a multicentre retrospective cohort study on behalf of the EORTC Cutaneous Lymphoma Tumours Group (CLTG)Maël Blanchard, Marie-Anne Morren, Anne-Marie Busschots, et al.
The British Journal of Dermatology|March 29, 2025
Management of congenital ichthyoses: Guidelines of care: Part One: 2024 UpdateJuliette Mazereeuw-Hautier, Amy S Paller, Isabelle Dreyfus, et al.
The Journal of Allergy and Clinical Immunology. in Practice|November 20, 2020
Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 PatientsMarie-Louise Frémond, Alice Hadchouel, Laureline Berteloot, et al.
The Journal of Allergy and Clinical Immunology. in Practice|November 13, 2018
The Data Registry of the European Competence Network on Mastocytosis (ECNM): Set Up, Projects, and PerspectivesPeter Valent, Joanna N G Oude Elberink, Aleksandra Gorska, et al.
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