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- 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
- A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
- Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
- Structural Stability of Wild Type and Mutated α-Keratin Fragments: Molecular Dynamics and Free Energy Calculations
- Novel <i>KRT83</i> and <i>KRT86</i> mutations associated with monilethrix
- A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
- Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
- Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
- SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
- Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
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