Disease: Isolated congenital nail dysplasia
- A Case Report of an Infant with Autosomal Recessive Dystrophic Epidermolysis Bullosa: COL7A1 Gene Mutations at C2005T and G7922A
- A novel locus for ectodermal dysplasia of hairs, nails and teeth type maps to chromosome 18q22.1-22.3
- A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a large Iranian kindred
- Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes <em>TP63</em> and <em>CNGB3</em>
- Aplasia cutis congenita in a defined population from northwest Spain
- Aplasia cutis congenita: a report of two cases from National Hospital Abuja, Nigeria and review of the literature
- Assignment of the gene for a new hereditary nail disorder, isolated congenital nail dysplasia, to chromosome 17p13
- Bilateral ankyloblepharon: more than a simple malformation
- Bilateral congenital absence of patella
- Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia
- Congenital brachydactyly and nail hypoplasia: clue to bone-dependent nail formation
- Congenital marked hypertrichosis and Laband syndrome in a child: overlap between the gingival fibromatosis-hypertrichosis and Laband syndromes
- Congenital onychodysplasia of the index finger presenting as a congenital bifid nail
- Deleterious Variants in <em>WNT10A</em>, <em>EDAR,</em> and <em>EDA</em> Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations
- Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome
- Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes
- Genetics of human isolated hereditary nail disorders
- Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome
- Hair shaft abnormalities--clues to diagnosis and treatment
- Hereditary disorders of the glomerular basement membrane
- Iso Kikuchi syndrome: Congenital onychodysplasia of the index fingers, or COIF syndrome
- Iso-Kikuchi Syndrome: Report of 3 Pediatric Cases
- Isolated congenital nail dysplasia: a new autosomal dominant condition
- Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature
- Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia
- Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia and hypodontia in Chinese kindreds
- Neonate born to hepatitis B carrier mother presenting with congenital onychodysplasia of the index finger (Iso-Kikuchi syndrome)
- Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect
- Wide clinical spectrum in Zimmermann-Laband syndrome