research Expanding The Senior-Løken Syndrome Spectrum: Combined Rothmund-Thomson Features Unveil The Distinct Teelwani Syndrome Phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
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research Rothmund-Thomson Syndrome Type 2 – A Rare Cause of Chronic Wounds
Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
research Premature Greying of Hair (Premature Canities): A Concern for Parent and Child
Genetics, stress, and health issues can cause early hair greying, which affects self-esteem, and there's no cure, only hair dye.
research Transcriptome Analysis of Skin from SMP30/GNL Knockout Mice Reveals the Effect of Ascorbic Acid Deficiency on Skin and Hair
Vitamin C deficiency changes gene expression, affecting skin and hair health.
research Expanding Phenotype of Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis Caused by FAM111B Mutations: Report of an Additional Family Raising the Question of Cancer Predisposition and a Short Review of Early-Onset Poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
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