research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.
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210-240 / 1000+ resultsresearch Research landscapes and knowledge structure of cardiac xenotransplantation: A bibliometric analysis
Cardiac xenotransplantation is moving towards clinical use with growing research and collaboration.
research Disorders of Sex Development
DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
research Lipedematous scalp with heterochromia of scalp hair in a boy
A boy had a rare scalp condition with thickened skin and different-colored hair.
research Interplay between EDA-EDAR and WNT signalling pathways in the development of skin appendages in hypohidrotic ectodermal dysplasia
Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
research The Rare Occurrence of a Left Atrial Thrombus in a Dog
A dog with a rare heart clot died despite treatment, highlighting the need for better clot treatments in dogs.
research Myotonic Dystrophy—A Progeroid Disease?
Myotonic dystrophy may be classified as a segmental progeroid disorder.
research Targeting cardiac hypertrophy through a nuclear co‐repressor
Targeting NCoR1 can help treat heart enlargement and dysfunction.
research DecisionDx‐Melanoma and Sentinel Lymph Node Biopsy
research Angiokeratomas Scroti Associated with Angiokeratomas of the Eyelids: Coincidence or One Entity? A Case Report and Review of the Literature
The report suggests that the same underlying issue in blood vessel support may cause angiokeratomas on both the scrotum and eyelids.
research Male sex hormone and reduced plakoglobin jointly impair atrial conduction and cardiac sodium currents
Male hormones and reduced plakoglobin can impair heart electrical function and increase arrhythmia risk in males.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research Pharmakokinetik und Biokonversion von Dehydroepiandrosteron nach Dexamethason-Vorbehandlung bei Frauen mit dem Syndrom der polyzystischen Ovarien
Women with PCOS have higher 5alpha-reductase activity, affecting steroid levels.
research IDIOPATHIC HYPOPARATHYROIDISM; A REPORT OF 2 CASES
Idiopathic hypoparathyroidism is rare and can be managed with dihydrotachysterol.
research AORTOCAVAL PARAGANGLIOMA IN VON HIPPEL-LINDAU DISEASE
VHL disease can cause early paragangliomas, needing lifelong monitoring.
research Delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old male patient: a case report.
A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research Diagnosed with primary adrenal insufficiency? search adrenoleukodystrophy-two brothers presented with similar phenotype
Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
research Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia
A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research JID VisualDx Quiz: February 2013
research Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
research A 9-month-old infant with severe scalp dermatosis
The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
research Serum dihydrotestosterone levels are associated with adverse myocardial remodeling in patients with severe aortic valve stenosis before and after aortic valve replacement
Higher DHT levels are linked to worse heart changes in severe aortic valve stenosis patients.
research Dual transposition flaps for the reconstruction of large scalp defects
Technique effectively reconstructs large scalp defects with minimal hair loss and visible scarring.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research SUN-585 A Case of Atypical Myxedema in Hypothyroidism
A woman with severe hypothyroidism had a rare skin condition usually linked to a different thyroid disease.
research Different orientation of the incisions: an efficient method to facilitate the implantation process
Changing the direction of cuts can make it easier to put in implants.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.