research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
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960-990 / 1000+ resultsresearch Lead, Cadmium, Copper and Zinc Concentrations in Blood and Hair of Mothers of Children with Locomotor System Malformations
Higher lead levels were found in mothers of children with malformations.
research Hormonal Control of Cardiac Action Potential Phase 1 Currents in the Brugada Syndrome
Androgens may increase arrhythmias in Brugada Syndrome, while Finasteride could reduce them.
research Serum level of calprotectin as a new inflammatory marker in patients with alopacia areata
Calprotectin levels are higher in alopecia areata patients, indicating systemic inflammation.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research An adolescent girl with coexisting ovarian mature cystic teratoma and HAIR-AN syndrome, an extreme subtype of polycystic ovarian syndrome
A teenage girl had both a rare ovarian tumor and a severe form of polycystic ovarian syndrome.
research Hyperaldosteronism and Hyperprogesteronism in a Cat
Cats with adrenal tumors may have both hyperaldosteronism and hyperprogesteronism.
research Rabson-Mendenhall syndrome: two case reports and a brief review of the literature
The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Diffuse idiopathic skeletal hyperostosis in a 33-year-old woman with PCOS and metabolic syndrome: a rare scenario
A 33-year-old woman with PCOS and metabolic syndrome was unusually diagnosed with a bone condition called DISH, suggesting a possible link between these conditions.
research Hypertensive urgency in a child with focal epilepsy: Is it sodium valproate induced?
Sodium valproate can cause serious high blood pressure in children.
research sQuiz your knowledge! Anogenital and distal erythema, alopecia, and diarrhoea
CAL-PDT is safer and more effective for treating actinic keratosis on the scalp.
research Complex X chromosome rearrangement associated with multiorgan autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
research Effects of anticonvulsant drugs on chromosomes.
Anticonvulsant drugs may cause temporary chromosomal abnormalities.
research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research IDIOPATHIC HYPOPARATHYROIDISM; A REPORT OF 2 CASES
Idiopathic hypoparathyroidism is rare and can be managed with dihydrotachysterol.
research Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia
The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
research Identificación de la variación molecular y genética subyacente a las enfermedades de la piel
Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
research Immunohistochemical Study of Calretinin in Normal Skin and Cutaneous Adnexal Proliferations
Calretinin can help identify certain skin structures and tumors.
research Ovarian and Adrenal Venous Catheterization for Hyperandrogenism
Venous catheterization may help diagnose the cause of female hyperandrogenism when imaging is unclear.
research The Sacred Heart Bilobed Flap
The Sacred Heart Bilobed Flap is a surgical method for repairing small scalp defects with local flaps, relying on scalp elasticity and hair regrowth to hide any imperfections.
research Light Microscopic Hair Abnormalities in Children: Retrospective Review of 119 Cases in a 10-Year Period
Over half of the children had abnormal hair under a microscope, with many having genetic hair conditions.
research From the Elephant Man to Barbie Girl: Dissecting the Freak from the Margins to the Mainstream
Society's view of "freaks" has shifted from natural deformities to extreme plastic surgery, reflecting changing beauty standards and pressures.
research Repair of a Deep Proximal Thumb Defect
research INCIDENCE OF VIRILISATION IN SEX CORD STROMAL TUMOURS OF OVARY, A 5- YEAR EXPERIENCE IN A TERTIARY CARE GYNAECOLOGICAL CENTRE
Some ovarian tumors can cause masculinization, and it's important to check for various causes when this symptom is present.
research Premature isolated adrenarche in a six-year-old girl
A six-year-old girl has early signs of puberty, needs no treatment, but requires regular check-ups for future health risks.
research Bachmann–Bupp syndrome and treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.