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Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families

11 Feb 2022

Abstract excerpt

BACKGROUND: Monilethrix is a rare hereditary hair loss disorder characterized by hair fragility and beaded hair shaft alterations. Monilethrix is classically inherited in an autosomal dominant (AD) fashion caused by variants in the hair keratin genes KRT81, KRT83, or KRT86. Interestingly, an autosomal recessive (AR) form of monilethrix with variants in DSG4 gene has also been reported in recent years. OBJECTIVE:...

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PMID: 35146972
DOI: 10.1002/mgg3.1889

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