research Short Anagen Hair Syndrome Is Caused by Mutations in the WNT10A Gene and Has a Genetic Overlap With Male Pattern Hair Loss
Mutations in the WNT10A gene cause Short Anagen Hair syndrome and increase the risk of male pattern hair loss.
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210-240 / 1000+ results research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research Biochemical Features of Primary Cells from a Pediatric Patient with a Gain-of-Function ODC1 Genetic Mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research Molecular Epidemiology of Hypospadias: Review of Genetic and Environmental Risk Factors
Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research Hypotrichosis With Juvenile Macular Dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research Keratosis Follicularis Spinulosa Decalvans: Case Report
A rare genetic disease caused severe, worsening hair loss from early childhood with poor treatment results.
research Granulomatous Skin Involvement in a Patient with an Unusual NOD2 Mutation
A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.
research A Rare Case of Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research Homologous Recombination Induced by Doxazosin Mesylate and Saw Palmetto in the Drosophila Wing-Spot Test
Doxazosin mesylate and saw palmetto cause genetic changes in fruit flies.
research Fibrodysplasia Ossificans Progressiva: A Segmental Progeroid Syndrome
Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
research Risk Factors, Prevalence, and Diagnosis of Hutchinson-Gilford Syndrome with Special Reference to Case Reports
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research Rapp-Hodgkin Syndrome: A Review of Hair and Hair Color Aspects
Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
research Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins
Environmental factors can cause mutations in skin proteins, leading to skin disorders.
research Mechanism of Androgenic Alopecia: Addressing Speculations Through Empirical Evidence
Hair loss in men is mainly caused by hormones and genes, and while current treatments can slow it down, they can't fully stop it.
research Defects in Androgen Biosynthesis Causing 46,XY Disorders of Sexual Development
Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Endocrine Disorders in Woodhouse-Sakati Syndrome: A Systematic Review of the Literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research An Update on Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
research Chrousos Syndrome: From Molecular Pathogenesis to Therapeutic Management
The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
research Hutchinson-Gilford Progeria Syndrome: Report of 2 Cases and a Novel LMNA Mutation in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
research Pallister-Killian Syndrome: A Case Study
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research An Unusual Presentation of X-Linked Adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
research Hutchinson-Gilford Progeria Syndrome: Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research An Early Diagnosis of Trichorhinophalangeal Syndrome Type 1: A Case Report and Review of Literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research Woodhouse-Sakati Syndrome: A Case Study of Three Saudi Sisters
The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
research Bachmann–Bupp Syndrome and Treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research Pulmonary Manifestations of Birt-Hogg-Dubé Syndrome
People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
research Characterization of an Autoimmune Condition Associated with AEC Syndrome
Controlling Tslp can improve health in AEC syndrome patients.