research Case of Non-Herlitz Junctional Epidermolysis Bullosa with COL17A1 Mutation
Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
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research Nonclassical Congenital Adrenal Hyperplasia and Pregnancy
Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research Open Questions in Hidradenitis Suppurativa Research: A Hair Biologist's Perspective
The conclusion suggests that early signs of hidradenitis suppurativa may start in the hair follicle, with genetic and immune factors playing a role, highlighting the need for more research on the hair follicle's immune system.
research Alopecia Areata: Autoimmune Nature, Genetic Associations, and Treatments
Alopecia areata is an autoimmune disease with genetic links, treatable with certain medications, and can affect mental health.
research 5-Alpha-Reductase Deficiency in a Saudi Girl
A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
research The Role of Candidate Pharmacogenetic Variants in Determining Valproic Acid Efficacy, Toxicity, and Concentrations in Patients with Epilepsy
Genetic variants can affect valproic acid's effectiveness, side effects, and levels in epilepsy treatment.
research The Genomic Variation in Textured Hair: Implications in Developing a Holistic Hair Care Routine
Afro-textured hair needs personalized care due to its unique genetic traits.
research Updates to Male Infertility: AUA/ASRM Guideline 2024
The 2024 guideline updates recommendations for genetic testing, imaging, and sperm retrieval in male infertility.
research Generalized Woolly Hair: Case Report and Literature Review
Woolly hair is a rare genetic condition with no effective treatments.
research What Work-Up Should Be Done for Patients With Alopecia?
Children's hair loss can have various causes, including infections, autoimmune issues, physical stress, nutritional problems, and genetic factors.
research Androgenetic Alopecia in Men: An Update on Genetics
Androgenetic alopecia in men is genetic and linked to health issues like obesity and heart disease, with treatments including minoxidil, finasteride, and hair transplants.
research Utilizing SNP Association Analysis as a Prospective Approach for Personalizing Androgenetic Alopecia Treatment
Genetic factors could lead to personalized treatments for hair loss.
research Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Insights Into Alopecia Areata: A Systematic Review Of Prevalence, Pathogenesis, And Psychological Consequences
Alopecia Areata affects people of all ages worldwide, is likely caused by genetic and environmental factors, and can lead to stress and depression, highlighting the need for treatments that address both physical and mental health.
research Male Hair Loss – What Our Genes Reveal
Genetic research may lead to better ways to predict and treat male-pattern hair loss.
research Molecular Characterization of Keratin-Associated Protein-7 (KRTAP7) Gene for Hair Quality in Indian Dromedary Camel
Certain genetic variations in camels affect hair coarseness.
research ALX4-Related Frontonasal Dysplasia Sequence Presenting With Alopecia in a 12-Year-Old Girl
A 12-year-old girl's hair loss was linked to a rare genetic condition called ALX4-related frontonasal dysplasia.
research The Pattern and Clinical Profile of Alopecia Areata: Panoramic Review, Update, and Advances on Etiopathogenesis, Associated Factors, Diagnosis, Complications, Management, and Prognosis in Treatment 2023
Alopecia areata causes sudden hair loss, has genetic links, and can be managed but not cured.
research Clinical Guidelines of Ukrainian Hair Research Society: Diagnosis and Treatment of Alopecia Areata
The guidelines suggest using various treatments, including antidepressants and steroids, for alopecia areata and discuss the condition's genetic and immune aspects.
research Analysis of 72,469 UK Biobank Exomes Links Rare Variants to Male-Pattern Hair Loss
Rare genetic variants in five specific genes are linked to male-pattern hair loss but only account for a small part of the risk.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Congenital Alopecia Areata: A Systematic Review
Congenital alopecia areata may have genetic links and topical corticosteroids are an effective treatment.
research Forensic DNA Phenotyping: A Promising Tool to Predict Human Appearance for Forensic Purposes
Forensic DNA phenotyping is becoming useful for predicting physical traits in criminal investigations but is limited by ethical concerns and incomplete genetic understanding.
research Commonly Associated Disorders With Complete Scalp Alopecia in Early Childhood: A Review
Six genetic conditions are often linked to complete scalp hair loss in children.
research Case of Autosomal Recessive Woolly Hair/Hypotrichosis with Compound Heterozygous Mutations in the LIPH Gene at c.742C > A and c.614A > G: The First Japanese Case
The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
research Acrodermatitis Enteropathica – Diagnostic Challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 and Non-Ossifying Fibroma in Femur: A Case Report
A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.