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.
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research To Grow or Not to Grow: Hair Morphogenesis and Human Genetic Hair Disorders
Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research Genetic Hair and Nail Disorders
Recent progress has been made in understanding inherited hair and nail disorders.
research Mimicking Hair Disorders by Genetic Manipulation of Organ-Cultured Human Hair Follicles
Scientists can mimic hair disorders by altering genes in lab-grown human hair follicles, but these follicles lack some features of natural ones.
research Inherited Disorders of Corneocyte Proteins
Ichthyoses are genetic skin disorders that affect the skin's barrier function.
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 Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Disorders of Keratinization
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
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 Androgenetic Alopecia: An Autosomal Dominant Disorder
Hair loss in androgenetic alopecia is caused by genetic factors and androgen excess, and can be treated with combined therapies.
research Isotretinoin-Unresponsive Acne as a Sign of a Congenital Disorder: A Case of 21-Hydroxylase Deficiency
Acne not improved by usual treatments may indicate a genetic disorder.
research Congenital Zinc Deficiency from Mutations of the SLC39A4 Gene as the Genetic Background of Acrodermatitis Enteropathica
A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
research Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity
A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
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 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.
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 Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research Use of Induced Pluripotent Stem Cells in Dermatological Research
iPSCs can help treat genetic skin disorders by creating healthy skin cells from a small biopsy.
research Keratosis Follicularis Spinulosa Decalvans: What Syndrome Is This?
Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
research Acrodermatitis Enteropathica – Diagnostic Challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth, and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research Keratosis Follicularis Spinulosa Decalvans in a Family
KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
research Congenital Adrenal Hyperplasia: A Detailed Review of 21-Hydroxylase Deficiency
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
research Novel Mutations of the ABCA12, KRT1 and ST14 Genes in Three Unrelated Newborns Showing Congenital Ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Testicular Steroidogenesis: Production and Regulation of Testosterone and Dihydrotestosterone
Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.
research Monilethrix: The Use of Trichoscopy in Clinical Diagnosis
Monilethrix is a genetic disorder causing brittle hair, diagnosed using tricoscopy.
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 Critical Evaluation of the Concept of Genetics in Ayurveda with Special Reference to Eight Undesired Body Types (Ashta Nindit)
Ayurveda's descriptions of genetic disorders align with modern genetic understanding.
research Clinical and Molecular Genetic Studies in Hereditary Hair Loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.