1 citations
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November 2017 in “Expert opinion on orphan drugs” This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.
33 citations
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June 2016 in “Pediatric Dermatology” This review examines hair shaft disorders, reporting limited evidence for treatments like minoxidil and oral retinoids, and emphasizes gentle hair care and genetic counseling for managing congenital cases.
December 2025 in “Italian Journal of Anatomy and Embryology” This narrative literature review examined how linking embryonic development with non-genetic skin anomalies can improve diagnostic accuracy, guide prenatal counseling, and enrich dermatology education by revealing specific vulnerabilities in skin morphogenesis and supporting advances in regenerative medicine.
17 citations
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June 2017 in “Gene” This is the first report of the FOXN1 p.R255X mutation from India, demonstrating the global spread of this genetic mutation previously found only in an Italian community.
July 2021 in “Advances in laboratory medicine” This article reviews differential diagnosis approaches for 46,XY DSD, proposing a diagnostic algorithm focused on biochemical and genetic data, without presenting new clinical results.
