research Cantú Syndrome Is Caused by Mutations in ABCC9
This study identified heterozygous mutations in the ABCC9 gene as the genetic basis of Cantú syndrome, suggesting the syndrome as a new member of potassium channelopathies.
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5 / 169 resultsresearch Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
This study identified ABCB6 as the first gene linked to dyschromatosis universalis hereditaria (DUH) in a large Chinese family, suggesting it plays a role in skin pigmentation.
research SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
This literature review reports that mutations in the SASH1 gene are linked to different pigmentation disorders, including dyschromatosis universalis hereditaria and lentiginosis. It further suggests SASH1's significant role in melanocyte processes and its potential as a target for developing treatments for these conditions.
research Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting
This review discusses the state-of-the-art knowledge on pseudoxanthoma elasticum, summarizing recent advancements in genetics, pathomechanisms, and potential treatments but reports no new clinical findings.
research A woman with iatrogenic androgenetic alopecia responding to finasteride
EF and PXE not closely related.
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1 / 1000+ resultscommunity Being Safe on Oral Minoxidil: tl;dr on the literature.
Oral minoxidil is effective for hair loss but can cause cardiovascular side effects, such as pericardial effusion, especially in those with genetic predispositions. Starting with low doses and monitoring cardiovascular health are advised to reduce risks.
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