5 citations
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September 2021 in “Southern African Journal of Hiv Medicine” The guideline provides healthcare professionals in South Africa with instructions for comprehensive, multidisciplinary gender-affirming care, including HIV prevention and treatment for transgender and gender diverse individuals.
July 2025 in “Human Genomics” New LSS gene variants help understand congenital hypotrichosis 14 better.
December 2022 in “Journal of neurodevelopmental disorders” Hair follicle sampling is a practical method for measuring biomarkers in children with and without Fragile X syndrome.
Giant axonal neuropathy changes the structure of keratin in human hair, making it stiffer and stronger.
294 citations
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February 1994 in “PubMed” Valproic acid is an effective and safe first-choice treatment for many types of seizures.
148 citations
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May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
34 citations
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July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
17 citations
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October 1980 in “PubMed” Valproic acid is effective for controlling seizures in children, especially as a single treatment, with some side effects.
11 citations
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September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
10 citations
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November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
9 citations
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May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
8 citations
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April 2017 in “Journal of The Royal Society Interface” Giant axonal neuropathy changes the structure of keratin in human hair.
8 citations
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March 2015 in “International Journal of Oncology” Tsc2-deficient stem cells can help understand and treat TSC-related tumors.
1 citations
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January 2025 in “Neuropsychopharmacology Reports” Higher sugar and maltose intake is linked to autism, while total carbohydrates, fructose, and lactose are linked to lower autism rates.
1 citations
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November 2024 in “AME Medical Journal” Vitamin C deficiency can persist in high-risk patients despite supplementation.
1 citations
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May 2023 in “Cutis” Eating disorders can cause skin problems, which may help with early diagnosis and treatment.
1 citations
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November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
January 2026 in “Dove Medical Press (Taylor and Francis Group)” Strainful life events may significantly trigger alopecia areata.
Nicolaides-Baraitser syndrome may cause eczema and hair loss, needing early skin care and treatment.
January 2025 in “Genetics in Medicine Open” This case study discusses a 9-year-old female with Coffin-Lowry Syndrome (CLS), a rare X-linked disorder, who presents with obesity, developmental delays, and precocious puberty, a relatively new finding associated with CLS. The patient exhibits typical CLS features and has a novel RPS6KA3 variant. Despite her condition, she is well-managed without medication, and her obesity is being addressed through lifestyle changes. The study highlights the potential association between CLS and precocious puberty, noting that while CLS is typically linked with delayed puberty, this case suggests a possible new dimension to the syndrome. The authors emphasize the need for further investigation to understand the relationship between CLS and precocious puberty better.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
January 2017 in “International journal of biomedical engineering and clinical science” Cri-du-chat syndrome can cause skin and oral lesions affecting nutrition and quality of life.
July 2024 in “Journal of Investigative Dermatology” 13 citations
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June 2023 in “Frontiers in Molecular Neuroscience” Blocking the KATP channel may help treat migraines.
13 citations
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July 2012 in “International Journal of Trichology” TTD symptoms vary widely, requiring thorough evaluations.
1 citations
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November 2023 in “Indian Dermatology Online Journal” Primary essential CVG is a rare, benign scalp condition with treatment focusing on symptom management and hygiene.
1 citations
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February 2020 in “Regenerative Medicine” Significant progress and collaborations in stem cell research and regenerative medicine were made, including advancements in hair growth, cancer therapies, and treatments for neurological disorders.
January 2014 in “International Journal of Clinical Medicine” Premature aging increases the risk of immune problems and autoimmune diseases.
13 citations
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December 2021 in “Molecules” Inorganic nanomaterials can improve brain disease imaging by being more precise and faster than traditional methods.