research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
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5 / 240 resultsresearch 237 Unveiling Skin Cancers Pathophysiology via the Modeling of Xeroderma Pigmentosum Disease Modeling Using CRISPR-Cas9 Technology
Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.
research 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy
In this study, deep phenotyping of 68 patients with XPD gene defects successfully separated individuals by clinical diagnosis and survival status, potentially improving diagnosis and prognosis for xeroderma pigmentosum and trichothiodystrophy.
research Mucocutaneous findings in pediatric patients with bone marrow transplantation
This study observed that pediatric bone marrow transplantation patients frequently experience various dermatological issues; mucositis and xeroderma were the most common.
research Prevalência e fatores relacionados às reações adversas no tratamento da acne com isotretinoína
This study found that 83% of acne patients treated with isotretinoin experienced adverse reactions, with the number of reactions related to treatment duration rather than sex, age, or dosage.
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