Condition: Monilethrix


rs57419521 in KRT81;KRT86 gene and Monilethrix PMID 9402962 1997 A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix.

PMID 25557232 2015 Novel KRT83 and KRT86 mutations associated with monilethrix.

PMID 9665406 1998 A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1.

rs57802288 in KRT83 gene and Monilethrix PMID 15744029 2005 A missense mutation in the type II hair keratin hHb3 is associated with monilethrix.

PMID 25557232 2015 Novel KRT83 and KRT86 mutations associated with monilethrix.

rs121909129 in KRT86 gene and Monilethrix PMID 10504448 1999 Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype.

PMID 10469314 1999 Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6.

PMID 10594761 1999 Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix.

PMID 25557232 2015 Novel KRT83 and KRT86 mutations associated with monilethrix.

PMID 9402962 1997 A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix.