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Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families.
Mol Genet Genomic Med. 2022 Apr;10(4):e1889. doi: 10.1002/mgg3.1889. Epub 2022 Feb 11.
Mol Genet Genomic Med. 2022.
PMID: 35146972
Free PMC article.
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, o …
BACKGROUND: Monilethrix is a rare hereditary hair loss disorder characterized by hair fragility and beaded hair shaft alterati …
An autosomal recessive mutation of DSG4 causes monilethrix through the ER stress response.
Kato M, Shimizu A, Yokoyama Y, Kaira K, Shimomura Y, Ishida-Yamamoto A, Kamei K, Tokunaga F, Ishikawa O.
Kato M, et al.
J Invest Dermatol. 2015 May;135(5):1253-1260. doi: 10.1038/jid.2015.12. Epub 2015 Jan 23.
J Invest Dermatol. 2015.
PMID: 25615553
Free article.
Monilethrix is a hair shaft anomaly characterized by beaded hair with periodic changes in hair thickness. Mutations in the desmoglein 4 (DSG4) gene reportedly underlie the autosomal recessive form of the disease. ...Genetic analysis revealed a homozygous mutation, c …
Monilethrix is a hair shaft anomaly characterized by beaded hair with periodic changes in hair thickness. Mutations in the des …
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