research FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
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research Defective trophoblast function in mice with a targeted mutation of Ets2
Ets2 gene is crucial for placental development in mice.
research The spotted lunula
Alopecia areata can cause spotty white areas on nails.
research Investigating the Genetic Association of Selected Candidate Loci with Alopecia Areata Susceptibility in Jordanian Patients
No significant genetic link to alopecia areata was found in the Jordanian group.
research Dual Tumors — Trichoadenoma of Nikolowski and Melanocytic Naevi
A person had two different benign skin tumors, a trichoadenoma and melanocytic naevi, at the same time but in different places on the face.
research Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother
The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Clinical and dermatoscopic features of temporal triangular alopecia in infants
Temporal triangular alopecia in infants is mostly seen in males at birth, with unique features that help with diagnosis.
research Candidate Gene Analysis Of Alopecia Areata In Jordanian Population Of Arab Descent: A Case–Control Study
The study found that a specific genetic variation in the TNFα gene is significantly linked to Alopecia Areata in the Jordanian Arab population.
research Spangled hair in siblings
Two siblings had a rare hair condition with banded hair, which doesn't need treatment.
research Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of accurate case characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research [Association of eight single nucleotide polymorphisms of chromosomes 20 and X with androgenetic alopecia among ethnic Han Chinese from Yunnan].
Certain genetic markers on chromosome 20 are linked to hair loss in the Han Chinese from Yunnan.
research Odd-Looking Hair and Progressive Alopecia in Mother and Son
Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
research Triangular Temporal Alopecia - Two Case Reports, Dermoscopy and Review
Triangular temporal alopecia is a benign hair loss pattern best diagnosed with dermoscopy, with limited treatment options like surgery and hair transplantation.
research Trichoscopy: A Useful Tool in Diagnosing Temporal Triangular Alopecia
Trichoscopy effectively diagnoses temporal triangular alopecia in children.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research Frequency of neuro-psychiatric dysfunction in anti-SSA/SSB exposed children with and without neonatal lupus
Anti-Ro exposed children had more reported neuro-psychiatric issues, but differences from healthy controls were not significant.
research Alopecia Universalis with Frequently Relapsing Nephrotic Syndrome of Infantile Onset: A Rare Presentation
A rare case links early-onset alopecia universalis and nephrotic syndrome, suggesting genetic immune issues.
research Alopecia areata - probing the deforestation
The document concludes that doctors should recognize congenital triangular alopecia to avoid unnecessary treatments, as it does not respond to steroids like alopecia areata does.
research Iron Screening in Alopecia Areata Patients May Catch Hereditary Hemochromatosis Early
Screening for iron levels in patients with hair loss may help find a genetic iron overload condition early.
research Rare Association of Congenital Triangular Alopecia with Vitiligo
Congenital triangular alopecia and vitiligo can occur together, but treatment for one may not affect the other.
research Congenital Combined Melanocytic Nevus of the Scalp With Associated Alopecia Areata
A man with a birthmark on his scalp developed hair loss that improved with treatment, but the link between the birthmark and hair loss was unclear.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research A case of congenital pili multigemini
A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Genome-Wide Association Study of Alopecia Areata in Taiwan: The Conflict Between Individuals and Hair Follicles
Certain genetic variants linked to immune response increase the risk of alopecia areata in Taiwanese people.
research Role of Trichoscopy in diagnosing Genotrichosis—A Report of Two Cases
Trichoscopy is crucial for diagnosing rare genetic hair disorders.
research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research Congenital triangular alopecia
Congenital triangular alopecia is more common than thought and some treatments can be beneficial for appearance concerns.
research Temporal triangular alopecia: significance of trichoscopy in differential diagnosis
Trichoscopy is reliable for diagnosing Temporal Triangular Alopecia and can prevent unnecessary biopsies and wrong treatments.