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.
March 2009 in “Prenatal Diagnosis” This paper discusses the management of pregnancy in a carrier of the Donohue mutation and reports no new clinical findings.
This source highlights concerns about the safety and efficacy of dietary supplements marketed for hair loss, citing a lack of FDA testing and potential risks such as adverse side effects, interference with medical tests, and withholding of ingredient information.
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.
13 citations
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July 2009 in “Pediatrics in Review” This review discusses the diagnosis and treatment of 21-hydroxylase deficiency in congenital adrenal hyperplasia and emphasizes the need for earlier detection and proper management; it reports no clinical results.