Publications by authors named "F Gaudiello"
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.
Tiziana Fioretti Fabrizio Martora Ilaria De Maggio Adelaide Ambrosio Carmelo Piscopo Francesca Gaudiello
Biomedicines
May 2024
Article Synopsis
- * Researchers found that 8 patients had autosomal recessive ichthyosis, while others had X-linked ichthyosis, with a total of 24 disease-causing alleles identified, including 8 novel variants.
- * The findings help enhance early diagnosis and classification of ichthyosis patients, broadening the understanding of the genetic and phenotypic diversity of inherited ichthyosis disorders.
Piebaldism is a rare autosomal dominant disorder characterized by leucoderma with leucotrichia. We describe a case of white forelock repigmentation in an infant with piebaldism, thanks to a photograph sent by the patient's mother to our dermatology clinic, during COVID-19 pandemic.
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