research Woodhouse-Sakati Syndrome with Unique Unreported Previous Findings
Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
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720-750 / 1000+ results research Rickets and Alopecia with Resistance to 1,25-Dihydroxyvitamin D: Two Different Clinical Courses with Two Different Cellular Defects*
Patients with this syndrome can have different responses and worsening resistance to treatment over time.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research ALX4-related frontonasal dysplasia sequence presenting with alopecia in a 12 year old girl
A 12-year-old girl's hair loss was linked to a rare genetic condition called ALX4-related frontonasal dysplasia.
research The articulations of Adam's rib with the lower urinary tract
The patient had complex urinary tract issues and ambiguous genitalia, with physical features suggesting a hormonal imbalance.
research Hyperaldosteronism and Hyperprogesteronism in a Cat
Cats with adrenal tumors may have both hyperaldosteronism and hyperprogesteronism.
research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
research A 14-Year-Old Boy with Lower Extremity Swelling and Petechial Rash
The boy's symptoms improved with vitamin C treatment, highlighting the need to consider scurvy in kids with unusual diets.
research Effect of Diurnal Blood Pressure on Endothelial Functions in Essential Hypertensive Patients
Blood pressure that doesn't drop at night is linked to worse blood vessel function in people with high blood pressure.
research ELEVATION OF DIASTOLIC BLOOD PRESSURE AND REDUCTION OF VASCULAR CONTRACTION IN MAGNESIUM DEFICIENT RAT MODEL
Magnesium deficiency raises diastolic blood pressure and reduces vascular contraction.
research Dehydroepiandrosterone Sulfate Level is Lower in Polycystic Ovary Syndrome Patients with Autoimmune Thyroid Disease
PCOS patients with autoimmune thyroid disease have lower DHEAS levels.
research BH13 Is this dissecting cellulitis of the scalp in a White child?
The case suggests that dissecting cellulitis of the scalp can occur in a White child and should be considered when diagnosing pediatric scarring alopecia.
research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.
research Congenital cataract and slowly progressing facial skin lesions in a 5‐year‐old boy
A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
research Internal medicine-important advances in clinical medicine: percutaneous transluminal coronary angioplasty.
research Challenges in the Diagnosis of Simple-Virilizing Congenital Adrenal Hyperplasia: A Case Report
Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.
research A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses
A vitamin D receptor mutation causes rickets and affects immune responses.
research Dilation of Multiple Eccrine Ducts as a Highly Specific Marker for Cicatricial Alopecia
Widened sweat ducts are a very specific sign of scarring hair loss.
research Cronkhite–Canada Syndrome Diagnosis in the Absence of Gastrointestinal Polyps
Cronkhite-Canada syndrome can be diagnosed without gastrointestinal polyps if there is severe mucosal atrophy and edema.
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Perosomus elumbus fetal monster: a rare cause of dystocia in a beetal goat - a case report from Pakistan
A rare fetal malformation caused difficult birth in a goat, requiring surgery.
research Lateral plate mesoderm directs human amnion and ventral skin organoid formation
Lateral plate mesoderm helps create skin and amnion-like tissues for studying development and therapies.
research Rectal Bezoar: A Rare Cause of Intestinal Obstruction
research Primary hypothyroidism with exuberant dermatological manifestations
Thyroid disease can cause skin and hair changes, treatable with levothyroxine.
research Dermatologic Signs in Patients with Eating Disorders
Eating disorders like anorexia and bulimia cause skin problems, and dermatologists can help detect these disorders early for better treatment outcomes.
research Effects of Fetal Exposure to Diazoxide in Man
Fetal exposure to diazoxide can cause hair loss and abnormal hair growth in infants.
research “Osler’s phenomenon”: misdiagnosing Cushing’s syndrome
Doctors often diagnose Cushing's syndrome late, which worsens symptoms; earlier detection is needed.
research Comedonic discoid lupus erythematous
Doctors should consider comedonic discoid lupus erythematosus to avoid misdiagnosis.
research The Relation of Androgenetic Alopecia Severity with Epicardial Fat Thickness
More severe hair loss links to thicker heart fat, suggesting possible heart disease risk.
research Idiopathic hypoparathyroidism with extensive intracranial calcification in children
An 11-year-old boy in Saudi Arabia has a rare case of hypoparathyroidism with severe brain calcifications but normal development and no known cause.