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Research 30 of 1000+
- A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
- A homozygous missense variant in type I keratin <i>KRT25</i> causes autosomal recessive woolly hair
- EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
- Siberian cats help in solving part of the mystery surrounding golden cats
- A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
- Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
- Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
- A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
- Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
- Salt-losing tubulopathy and chronic dermatitis
- CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
- STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
- Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
- Disease causing homozygous variants in the human hairless gene
- A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
- Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
- Homozygous missense mutation in the<i>LIPH</i>gene causing autosomal recessive hypotrichosis simplex in a Chinese patient
- Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
- A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits
- <i>GJB6</i> missense variant in a Labrador Retriever with paw pad hyperkeratosis
- Decision‐Making Regarding the Administration of Live Vaccines to Patients With a <i>FOXN1</i> Heterozygous Missense Variant
- Independent DSG4 frameshift variants in cats with hair shaft dystrophy
- Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
- Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in <i>WNT10A</i>
- A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
- Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
- Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
- KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
- Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep
- Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree