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The variant c.274A>G (p.Asn92Asp) in in a patient with pachyonychia congenita and a novel clinical feature of acne inversa.
Front Genet
November 2024
Department of Dermatology, The Union Hospital, Fujian Medical University, Fuzhou, China.
Introduction: The occurrence of pachyonychia congenita (PC) and acne inversa (AI) may be related to gene mutations. The aim of this study is to identify the genetic cause in a patient with PC and AI, and to explore the possible molecular mechanism of their co-occurrence.
Methods: The clinical data of the proband were collected, and the genomic DNA of the proband and unaffected parents were extracted.
Non-pachyonychia congenita conditions in the International Pachyonychia Congenita Research Registry.
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Pachyonychia Congenita Project, Salt Lake City, Utah, USA.
Celebrating 20 Years of the International Pachyonychia Congenita Consortium.
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Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Human Molecular Genetics and Biochemistry, Tel-Aviv University, Tel Aviv, Israel.
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Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark.
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