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Research 61–90 of 1000+
- Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
- Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
- Alopecia areata in a patient with WNT10A heterozygous ectodermal dysplasia
- 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
- Insertional mutation of the hairless locus on mouse Chromosome 14
- Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
- Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript
- Successful use of topical minoxidil in the treatment of hypotrichosis associated with desmoplakin mutations
- Granulomatous skin involvement in a patient with an unusual <i>NOD2</i> mutation
- SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
- [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
- Multiple facial atrophic scars in childhood
- Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
- Connexin 26 (<i>GJB2</i>) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma
- Hague (<i>Hag</i>): A New Mouse Hair Mutation With an Unstable Semidominant Allele
- 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
- The Naked (N) Mutation, Chromosome 15
- An in vivo method for the detection of somatic mutations at the cellular level in mice
- Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
- Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
- Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
- Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
- 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
- Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
- STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
- Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
- Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
- A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
- A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis
- A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient