85 citations
,
March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
4 citations
,
October 2011 in “International Journal of Dermatology” Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
42 citations
,
October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.
6 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
1 citations
,
June 2022 in “Tidsskrift for Den norske legeforening” A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
26 citations
,
October 2019 in “JNCI Cancer Spectrum” Talazoparib is more effective than standard chemotherapy for advanced breast cancer with BRCA mutations.
4 citations
,
May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
1 citations
,
March 2013 in “British Journal of Dermatology” Recognizing eyebrow hair loss linked to a rare skin condition is crucial for proper treatment.
July 2024 in “Indian Journal of Dermatology Venereology and Leprology” Certain gene variations in PITX2 are linked to a higher risk of male pattern baldness in Indians.