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- Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in <i>TRPV3</i> Gene
- Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
- Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
- A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
- Identification of a Novel Missense Mutation in the Fibroblast Growth Factor 5 Gene Associated with Longhair in the Maine Coon Cat
- Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
- Cantú Syndrome Is Caused by Mutations in ABCC9
- A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
- Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
- Deciphering the pathogenesis of central centrifugal cicatricial alopecia
- Gene detection in a family with monilethrix and treatment with 5% topical minoxidil
- Clinical course of the first Japanese family with Marie Unna hereditary hypotrichosis: a follow-up report
- Gene detection in a family with monilethrix and observation of the treatment effect with 5% topical minoxidil
- Congenital Zinc Deficiency from Mutations of the<i>SLC39A4</i>Gene as the Genetic Background of Acrodermatitis Enteropathica
- A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
- Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
- Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
- A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
- A case of <i>MBTPS1</i>‐related disorder due to compound heterozygous variants in <i>MBTPS1</i> gene: Genotype–phenotype expansion and the emergence of a novel syndrome
- Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
- Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in <i>WNT10A</i>
- Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript
- Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
- 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
- 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
- Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
- Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
- The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
- 284 Deciphering the pathogenesis of central centrifugal cicatricial alopecia
- Keratin 71 Mutations: From Water Dogs to Woolly Hair