research Epidermolysis Bullosa Simplex in Children with De Novo Pathogenic Variants Disturbing KRT14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
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research EMQN Best Practice Guidelines for Molecular Genetic Testing and Reporting of 21-Hydroxylase Deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research A Japanese Case of Ichthyosis Follicularis with Atrichia and Photophobia Syndrome with an MBTPS2 Mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Ichthyosis Follicularis With Atrichia And Photophobia (IFAP) Syndrome: A Study On Genetic Mutation In A Japanese Patient
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research NUDT15, FTO, and RUNX1 Genetic Variants and Thiopurine Intolerance Among Japanese Patients With Inflammatory Bowel Diseases
Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
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