research Whole-Genome SNP Genotyping Mapped a Novel Locus for Hereditary Hypotrichosis on Chromosome 2q31.1–q32.2
Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
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research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research The Lanceolate Hair Rat Phenotype Results from a Missense Mutation in a Calcium Coordinating Site of the Desmoglein 4 Gene
A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
research Scd1 ab-Xyk: A New Asebic Allele Characterized by a CCC Trinucleotide Insertion in Exon 5 of the Stearoyl-CoA Desaturase 1 Gene in Mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research A Rare Case of Biotinidase Deficiency
An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.
research Acrodermatitis Enteropathica: A Rare Familial Disorder
Acrodermatitis enteropathica is a rare inherited disorder causing skin issues, diarrhea, and hair loss.
research Nonclassic 21-Hydroxylase Deficiency
Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
research Atrichia With Papular Lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Efficacy of Topical Henna on Itch and Wound Healing in Epidermolysis Bullosa Patients: A Pilot Clinical Trial
Henna ointment may help reduce itching and improve wound healing in patients with epidermolysis bullosa.
research FOXN1 Deficient Nude Severe Combined Immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Congenital Adrenal Hyperplasia: Comprehensive Overview and Clinical Management
The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
research Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding Locus
A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
research Vitamin D-Dependent Rickets Type II with Alopecia: Two Case Reports and Review of the Literature
Vitamin D-dependent rickets Type II causes bone problems and hair loss, and doesn't improve with Vitamin D treatment.
research Nonclassic Congenital Adrenal Hyperplasia: Pathophysiology, Genetics, and Management
Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research Type II Vitamin D Dependent Rickets: A Case Report
Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.
research Telogen Hair Loss and Androgenetic-Like Alopecia in GAPO Syndrome
A boy with GAPO syndrome had hair loss similar to male pattern baldness without hormone issues, possibly due to skin or blood vessel problems.
research Kennedy's Disease and Partial Androgen Insensitivity Syndrome: Report of 4 Cases and Literature Review
The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
research C2orf37 Mutational Spectrum in Woodhouse-Sakati Syndrome Patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research Successful Induction of Oral Tolerance in Netherton Syndrome
A girl with Netherton syndrome was able to eat wheat without allergies after a special treatment.
research An In Vivo Method for the Detection of Somatic Mutations at the Cellular Level in Mice
A new method can detect mutations in mice by observing changes in hair follicle cells.
research Hereditary Vitamin D Rickets: A Case Series in a Family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
research Hypotrichosis With Juvenile Macular Dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research An Unusual Presentation of Vitamin D Dependent Rickets Type 2 with Low 25(OH)D3 Levels and Alopecia: A Case Report of Two Siblings
Two siblings with a rare type of rickets and hair loss had low vitamin D levels, which is not typical for their condition.
research A Rare Case of Vitamin D Dependent Rickets Type II: A Case Report
A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
research Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
research Bamboo Hair Syndrome or Netherton Syndrome: A Case Report
Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
research Management of Pregnancy in a Carrier of the Donohue Mutation
Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
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.