research Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
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research Menstrual Disorders in Adolescents
The document concludes that early recognition and treatment of PCOS in adolescents is crucial for managing symptoms and long-term health risks.
research Hair Shaft Disorders: A Rare Case Series
The document concludes that proper diagnosis and treatment of hair shaft disorders require understanding their unique causes and avoiding hair-damaging practices.
research Male Hair Loss – What Our Genes Reveal
Genetic research may lead to better ways to predict and treat male-pattern hair loss.
research Dissecting Cellulitis of the Scalp
Dissecting cellulitis of the scalp is a condition that causes inflammation and scarring on the scalp, mainly affecting African-American men, and can lead to permanent hair loss.
research Female Pattern Hair Loss: An Overview with Focus on the Genetics
Different genes cause Female Pattern Hair Loss compared to male hair loss, and treatments vary, but more research is needed to understand it fully.
research A Frameshift Insertion in SGK3 Leads to Recessive Hairlessness in Scottish Deerhounds: A Candidate Gene for Human Alopecia Conditions
A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
research Identification of a Recurrent Nonsense Mutation in HR Gene Responsible for Atrichia with Papular Lesions in Two Kashmiri Families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Evaluation of Susceptibility Genes and Loci Associated with Male Androgenetic Alopecia for Female-Pattern Hair Loss in a Chinese Han Population and a Brief Literature Review
Male and female hair loss have different genetic causes.
research Keys to the Diagnosis of Hair Shaft Disorders: Part II
Hair shaft disorders, often due to genetics or environment, lack specific treatments but can be managed with gentle hair care and may improve with age or topical treatments.
research Heterogeneity in the Genetic Alterations and Clinical Presentation of Acrodermatitis Enteropathica: Case Report and Literature Review
AE can have varied symptoms and genetic causes, but zinc therapy helps.
research A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Genetic Basis of Alopecia Areata
More research is needed to understand the genetic causes of Alopecia areata to develop better treatments.
research Rothmund-Thomson Syndrome Type 2 – A Rare Cause of Chronic Wounds
Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
research The Genetics of Hair Shaft Disorders
The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
research A Missense Mutation in the P2RY5 Gene Leading to Autosomal Recessive Woolly Hair in a Syrian Patient
A gene mutation causes woolly hair in a Syrian patient.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
research Epidermolysis Bullosa Simplex in Children with De Novo Pathogenic Variants Disturbing KRT14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research Literature Review on Atopic Dermatitis and Related Studies
Atopic dermatitis may have genetic causes and can be treated with pharmacologic methods, glycerin creams, and controlling Staphylococcus aureus colonization.
research Hormonal and Genetic Etiology of Male Androgenetic Alopecia
research Vitamin D Dependent Rickets Type 2: A Case-Based Review of a Patient With Alopecia and Rickets
A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.
research Analysis of the Relationship Between the Mutation Site of the SLC39A4 Gene and Acrodermatitis Enteropathica: A Case Report and Literature Review
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research Alopecia in IL-10-Deficient Mouse Pups Is c-Kit-Dependent and Can Be Triggered by Iron Deficiency
Hair loss in certain young mice is linked to a specific gene and can be caused by lack of iron.
research Premature Greying of Hair (Premature Canities): A Concern for Parent and Child
Genetics, stress, and health issues can cause early hair greying, which affects self-esteem, and there's no cure, only hair dye.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research From Gene to Therapy in Spinal and Bulbar Muscular Atrophy: Are We There Yet?
Effective treatments for spinal and bulbar muscular atrophy are not yet available; more research is needed.
research Pseudopelade: An Inherited Alopecia
Pseudopelade is a rare inherited hair loss condition with a genetic cause.
research Alopecias in Humans: Biology, Pathomechanisms, and Emerging Therapies
New treatments for hair loss are emerging as we better understand hair growth and its genetic causes.