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Research 30 of 353
- A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
- Independent DSG4 frameshift variants in cats with hair shaft dystrophy
- A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
- The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of<i>KRT10</i>
- Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
- A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions
- De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
- Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
- 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
- Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
- The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome
- A second <i>KRT</i>71 allele in curly coated dogs
- Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
- De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
- Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
- Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
- Variant <i>PADI3</i> in Central Centrifugal Cicatricial Alopecia
- A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
- Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
- The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
- Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
- Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
- Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
- Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
- Identification of the Ovine Keratin-Associated Protein 21-1 Gene and Its Association with Variation in Wool Traits
- Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
- Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant
- Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss
- Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
- Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia