Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: Ichthyosis and CYP4F22[original query] |
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Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis. Human mutation 2018 7 39 (10): 1305-1313. Hotz Alrun, Bourrat Emmanuelle, Küsel Julia, Oji Vinzenz, Alter Svenja, Hake Lisanne, Korbi Mouna, Ott Hagen, Hausser Ingrid, Zimmer Andreas D, Fischer Judi |
Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation. PloS one 2020 15 (2): e0229025. Esperón-Moldes Uxia, Ginarte-Val Manuel, Rodríguez-Pazos Laura, Fachal Laura, Martín-Santiago Ana, Vicente Asunción, Jiménez-Gallo David, Guillén-Navarro Encarna, Sampol Loreto Martorell, González-Enseñat María Antonia, Vega A |
Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India. Pediatric dermatology 2022 4 39 (3): 420-424. Chiramel Minu Jose, Mathew Lydia, Athirayath Rekha, Chapla Aaron, Sathishkumar Dharshini, Mani Thenmozhi, Danda Sumita, George Re |
Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand. Pediatric dermatology 2022 Oct . Supsrisunjai Chavalit, Bunnag Thareena, Chaowalit Prapaipit, Boonpuen Niorn, Kootiratrakarn Tanawatt, Wessagowit Vesar |
Cross-sectional study on autosomal recessive congenital ichthyoses: association of genotype with disease severity, phenotypic and ultrastructural features in 74 Italian patients. Dermatology (Basel, Switzerland) 2024 4 . Andrea Diociaiuti, Marialuisa Corbeddu, Sabrina Rossi, Elisa Pisaneschi, Claudia Cesario, Angelo Giuseppe Condorelli, Tonia Samela, Simona Giancristoforo, Adriano Angioni, Giovanna Zambruno, Antonio Novelli, Rita Alaggio, Damiano Abeni, May El Hach |
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- Page last updated:May 06, 2024
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