research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
Search
for
Sort by
Research
390-420 / 1000+ resultsresearch Alopecia areata, thyroiditis and vitiligo vulgaris in a Japanese patient with smoldering type adult T‐cell leukemia/lymphoma
A patient with leukemia/lymphoma also had multiple autoimmune diseases, suggesting a link between them.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Monilethrix in three generations
Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
research Clinical Presentation and Diagnosis of Multisystemic Eosinophilic Epitheliotropic Disease in a Miniature Donkey: A Case Report
The donkey had a severe disease affecting multiple organs and was euthanized.
research First clinical cases of leishmaniosis in meerkats (Suricata suricatta) housed in wildlife parks in Madrid, Spain
Leishmaniosis was found in meerkats in Madrid wildlife parks, highlighting the need for more research and careful diagnosis.
research Moth eaten alopecia as a manifestation of group of skin diseases: Reporting a series of 100 cases
Moth-eaten alopecia is linked to various skin diseases and requires early treatment to prevent worsening.
research Systemic Lupus Erythematosus—Vasculopathy/Vasculitis, Susac Syndrome, and Myasthenia Gravis
Systemic lupus erythematosus is an autoimmune disease causing diverse symptoms and major organ involvement.
research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research Oligosecretory multiple myeloma: Unusual presentation of a rare clinical disease
A woman with a rare form of multiple myeloma had a headache and a skull mass, which led to her diagnosis after tests and a biopsy.
research Perspectives of Kennedy's disease
Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
research [Two cases of the rare Cronkhite-Canada syndrome].
Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
research MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research DEMODICOSIS WITH TICKS INFESTATION AND BABESIOSIS IN A MIXED DOG
The dog's condition improved after 21 days of treatment.
research Thyroxin Levels and Haematological changes in Dogs with Sarcoptic Mange
Dogs with sarcoptic mange may have altered thyroid function and blood changes.
research Mixed Connective Tissue Disease (MCTD) in a Girl with Lower Extremities Edema: A Brief Report
MCTD should be considered in children with recurring muscle issues, lupus-like symptoms, and edema.
research Skin features in myotonic dystrophy type 1: An observational study
People with Myotonic Dystrophy type 1 are more likely to have certain skin conditions, but not more likely to get skin cancer.
research A first case of childhood chronic inflammatory demyelinating polyneuropathy associated with alopecia universalis
A nine-year-old girl with muscle weakness and total hair loss improved with specific treatments.
research Concurrent psoroptic mange and malasseziosis in a beetal goat
Timely diagnosis and treatment improved a goat's skin condition.
research Autoimmune Polyglandular Syndrome Type 3-D
Autoimmune Polyendocrine Syndromes involve specific combinations of autoimmune diseases.
research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
research Whiskers amiss, a new vibrissae and hair mutation near the Krt1 cluster on mouse Chromosome 11
A new mutation in mice causes crooked whiskers and messy hair.
research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
research Rosacea and Rosacea-like Demodicldosis
Stopping the depression medication improved the woman's eyebrow hair loss, and a treatment for a skin condition caused by mites was effective.
research Monilethrix: Beaded hair and hypotrichosis in a child
A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Delusions of parasitosis: World perspective on the choice of psychopharmacotherapy
Clofazimine effectively treated a rare skin condition with ash-gray patches.
research FC‐10 Adult‐onset hair loss in Chesapeake Bay retrievers: a clinical and histological study
Adult-onset hair loss in Chesapeake Bay retrievers may be linked to abnormal adrenal hormone production.
research A forgotten and hidden disease
The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.
research Alopecia areata − animal models
Alopecia areata is influenced by genetics and immune system factors, and better understanding could improve treatments.