research More Than One Gene Involved in Monilethrix: Intracellular but Also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
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5 / 13 resultsresearch Autosomal Recessive Monilethrix: Novel Variants of the DSG4 Gene in Three Chinese Families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Novel PAX9 Mutation Associated with Syndromic Tooth Agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research Case Report: Exploring Autosomal Recessive Woolly Hair: Genetic and Scanning Electron Microscopic Perspectives on a Japanese Patient
A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
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.
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