research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
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990-1000 / 1000+ results research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research Vitamins and Alopecia
Vitamin deficiencies, especially biotin and vitamin D, can cause hair loss.
research G.P.2.16 Valproate, acetylcarnitine, folic acid and vitamin B12 in spinal muscular atrophy: Preliminary data of an open-label study in children
The treatment with valproate, acetylcarnitine, folic acid, and vitamin B12 may improve muscle strength in children with SMA without significant side effects.
research Melanosis Coli After Long-Term Ingestion of Cape Aloe
Long-term Cape Aloe use causes harmless colon pigmentation that can help detect polyps.
research Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
research Association of serum ferritin with chronic diffuse alopecia in female patient
Low iron levels are strongly linked to chronic hair loss in women.
research Oxidant and antioxidant status in patients with female pattern hair loss with varying severity
Oxidative stress may worsen female pattern hair loss and could help track the disease and treatment.
research iRhom2 Mutation Leads to Aberrant Hair Follicle Differentiation in Mice
A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
research Kadın Olgularda Yaygın Saç Kaybı ve Eşlik Eden Bulgular
Check serum ferritin levels and total blood count for women with diffuse hair loss.