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Research 391–420 of 1000+
- An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
- New clinico‐genetic classification of trichothiodystrophy
- A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
- 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
- Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
- Marie Unna hereditary hypotrichosis: Identification of a U2HR mutation in the family from the original 1925 report
- Keratin 71 Mutations: From Water Dogs to Woolly Hair
- Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
- Mutation in 5′ upstream region of <i>GCH</i> I gene causes familial dopa-responsive dystonia
- Novel splicing‐site mutation in <i>DCAF17</i> gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
- Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands
- Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
- Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in <i> KRT 5 </i>
- Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu <i>LMNA</i> mutation and in their asymptomatic heterozygotic mothers
- Characterization of novel TMEM173 mutation with additive IFIH1 risk allele
- Ischemic Stroke in a Young Adult Male During Finasteride Therapy
- Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
- X-linked Recessive Ectodysplasin A Mutations Induced Hypohidrotic Ectodermal Dysplasia and Severe Atopic Dermatitis Successfully Treated with Dupilumab
- Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
- Ichthyosis with confetti: clinics, molecular genetics and management
- A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
- Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
- Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
- Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
- Advances in the genetic understanding of hypohidrotic ectodermal dysplasia
- Biology and Genetics of Hair
- Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene
- <i>De novo</i> mutation in the mitochondrial tRNA<sup>Leu(UUR)</sup> gene (A3243G) with rapid segregation resulting in MELAS in the offspring
- Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
- Dermatopathology and molecular genetics