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- Discreet monilethrix: De novo mutation on the example of polish families
- POST-COVID 19 ENCEPHALITIS IN PATIENT WITH DE NOVO MUTATION IN THE SCN1A GENE, A CASE REPORT
- <i>De novo</i> mutations in monilethrix
- Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
- Novel de novo pathogenic variant in the <i>ODC1</i> gene in a girl with developmental delay, alopecia, and dysmorphic features
- Unique amino acid signatures that are evolutionarily conserved distinguish simple-type, epidermal and hair keratins
- Heterozygous deletion of the <i>NSDHL</i> gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi
- Value of dermoscopy for the diagnosis of monilethrix
- EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
- Biochemical features of primary cells from a pediatric patient with a gain-of-function <i>ODC1</i> genetic mutation
- A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
- <i>De novo</i> mutation in the mitochondrial tRNA<sup>Leu(UUR)</sup> gene (A3243G) with rapid segregation resulting in MELAS in the offspring
- Intratumoral <i>De Novo</i> Steroid Synthesis Activates Androgen Receptor in Castration-Resistant Prostate Cancer and Is Upregulated by Treatment with CYP17A1 Inhibitors
- A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1
- A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
- A novel mutation in the connexin 26 gene (<i>GJB2</i>) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
- An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
- Novel <i>KRT83</i> and <i>KRT86</i> mutations associated with monilethrix
- Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
- Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
- Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in <i>TRPV3</i> Gene
- A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the <i>TRPS1</i> Gene
- CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism
- Severe form of keratitis–ichthyosis–deafness (KID) syndrome associated with septic complications
- <i>GJB6</i> missense variant in a Labrador Retriever with paw pad hyperkeratosis
- Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
- Editors' Picks
- Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
- Concise Review: Wnt Signaling Pathways in Skin Development and Epidermal Stem Cells
- De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes