February 2020 in “Open Access Macedonian Journal of Medical Sciences” The patient with severe hirsutism improved after being diagnosed with non-classic congenital adrenal hyperplasia and treated with corticosteroids.
September 2013 in “Helda (University of Helsinki)” Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
A hair growth ointment improved hair length in a family with a genetic hair growth condition.
May 2011 in “Journal of pediatric nursing” A patient with congenital adrenal hyperplasia improved after adjusting her medication to prevent Cushing's syndrome symptoms.
2 citations
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June 2019 in “The Journal of Dermatology” Two cases showed skin abnormalities without bone or neural defects.
July 2024 in “LA CIENCIA AL SERVICIO DE LA SALUD Y NUTRICIÓN” The condition is harmless, doesn't worsen, and needs no invasive treatment.
December 2025 in “American Journal of Case Reports” Borderline newborn screening results should be carefully evaluated to prevent delayed diagnosis of thyroid issues.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
26 citations
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August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.