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.
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research Gonadal dysgenesis and bone metabolism
Gonadal dysgenesis, like Turner's and Klinefelter's syndromes, negatively affects bone health, but hormone treatments can help.
research Psoriasis y alopecia areata con traquioniquia concurrente en una paciente pediátrica con síndrome de Turner
A girl with Turner syndrome had psoriasis, alopecia areata, and trachyonychia.
research Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
Airway issues can occur in Conradi–Hünermann–Happle syndrome and can be managed with minimally invasive procedures.
research Ovarian hyperthecosis in adolescent females: two case reports and a review of the literature
Ovarian hyperthecosis should be considered in young women with severe male-like symptoms and can be managed with hormone treatments.
research A 13-Year-Old Boy from Thailand with Hutchinson-Gilford Progeria Syndrome with Coronary Artery and Aortic Calcification and Non-ST-Segment Elevation Myocardial Infarction (NSTEMI)
A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.
research Hypopigmented facial lesions: a case of eruptive tumor of follicular infundibulum
Consider TFI in facial hypopigmentation diagnoses and confirm with a biopsy.
research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
research Selective complete Clq deficiency associated with systemic lupus erythematosus.
Clq deficiency is linked to systemic lupus erythematosus symptoms.
research Discreet monilethrix: De novo mutation on the example of polish families
A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
research Dermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence
Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
research 454 Modeling epidermolysis bullosa simplex with cardiomyopathy using KLHL24-mutant pluripotent stem cells.
KLHL24-mutant stem cells help understand skin and heart disease.
research Hyperandrogenism, Elevated 17-Hydroxyprogesterone and Its Urinary Metabolites in a Young Woman with Ovarian Steroid Cell Tumor, Not Otherwise Specified: Case Report and Review of the Literature
A young woman's symptoms suggested PCOS, but tests and surgery confirmed and treated a rare ovarian tumor, resolving her condition.
research SAT-240 Type B Insulin Resistance Resulting in Hyperthecosis in a Postmenopausal Woman
A woman's severe insulin resistance improved with treatment, but she still had high testosterone levels due to ovarian issues.
research An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery
Early diagnosis and multidisciplinary care, including orthopedic surgery, can prevent long-term disability in IFAP syndrome.
research Loose Anagen Hair Syndrome in an Indian Child with Trichoscopic Features
Loose anagen hair syndrome in children often resolves on its own.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research The SAHA Syndrome
SAHA syndrome links oily skin, acne, excess hair, and hair loss in women, similar to PCOS.
research Vogt-Koyanagi-Harada Syndrome from Dermatological Perspective: A Case Report
Early diagnosis and aggressive treatment are essential for managing Vogt-Koyanagi-Harada syndrome effectively.
research Symptom Clusters in Brazilian Women With Stage I and Stage III Nonmetastatic Breast Cancer: A Cross‐Sectional Study
Understanding specific symptoms in different cancer stages can improve personalized care and quality of life.
research LOOSE ANAGEN SYNDROME AND LOOSE ANAGEN HAIR
Loose Anagen Syndrome causes easy-to-pull, thin hair, mainly in young girls, and improves with age.
research A Congenital Hair Defect: Trichoschisis With Alternating Birefringence and Low Sulfur Content
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
New LSS gene variants help understand congenital hypotrichosis 14 better.
research Unusual presentation with polymenorrhagia and markedly high 17-hydroxy progesterone levels in a lady with Non-Classic Congenital Adrenal Hyperplasia.
A woman with non-classic CAH had unusual heavy periods and high hormone levels, improved with treatment.
research Syndromes of Severe Insulin Resistance (SSIRs)
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research Localized syringolymphoid hyperplasia with alopecia and anhidrosis
SLHA can be hard to diagnose and needs teamwork between specialists.
research Permanent diffuse alopecia after haematopoietic stem cell transplantation in childhood
Some children who had stem cell transplants developed permanent hair loss, especially when treated with a drug called busulphan.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.