7 citations
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May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
July 2024 in “Journal of Rare Diseases” Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
November 2016 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
87 citations
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March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
29 citations
,
December 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” With careful management, people with congenital adrenal hyperplasia can have successful pregnancies and become parents.
41 citations
,
July 2018 in “Frontiers in Neurology” Myotonic dystrophy may be classified as a segmental progeroid disorder.
November 2023 in “IntechOpen eBooks” Arsenic exposure from contaminated water severely damages the skin, causing hair loss, pigmentation changes, irritation, and can lead to skin cancer.
September 2025 in “International Journal of Molecular Sciences” Hair analysis could help diagnose and treat schizophrenia more effectively.
2 citations
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September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
April 2023 in “Clinical Chemistry and Laboratory Medicine” The document concludes that inflammation markers can be used in diabetes, vitamin D3 affects immune pathways, hyperthyroidism changes hormone levels, androgen levels help diagnose Adrenocortical Carcinoma, erectile dysfunction is linked to diabetes, hypogonadism is common in HIV-infected males, and hormones can be biomarkers for various conditions.
21 citations
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May 2024 in “American Journal of Medical Genetics Part A” Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
January 2024 in “Current research in toxicology” Thallium is highly toxic, causing severe health issues, and Prussian blue is the best antidote.
1 citations
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June 2023 in “Reproduction” Microglia, the brain's immune cells, may contribute to Polycystic Ovary Syndrome (PCOS) by altering the female brain's structure and function, with kisspeptin neurons and GABA neurotransmitters also playing a role.
22 citations
,
September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
10 citations
,
March 2024 in “Endocrine Reviews” Significant progress was made in understanding androgen excess disorders, but much is still unknown.
March 2012 in “Hair transplant forum international” Environmental factors and chemicals might affect hormone balance and contribute to common hair loss.
36 citations
,
September 2015 in “Orphanet Journal of Rare Diseases” Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
9 citations
,
August 2021 in “Journal of clinical medicine” Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
30 citations
,
January 2023 in “EFSA journal” Adults should not consume more than 255 micrograms of selenium per day to avoid risk of hair loss and other side effects.
11 citations
,
September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
1 citations
,
February 2020 in “Cureus” Women with PCOS are more likely to have skin problems like excessive hair, acne, and hair loss.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
29 citations
,
February 2019 in “Environment international” Higher early lead exposure is linked to delayed puberty in girls.
March 2024 in “International journal of molecular sciences” Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
365 citations
,
November 2018 in “Journal of Allergy and Clinical Immunology” People with atopic dermatitis have different skin bacteria, and targeting these bacteria might help treat the condition.
317 citations
,
April 2018 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” PCOS is a complex condition in women that can lead to health issues, and lifestyle changes are the best management approach.
138 citations
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August 2020 in “Frontiers in Endocrinology” PCOS affects health and quality of life, with effective treatments available and a need for more research on alternative therapies.
August 2025 in “Seminars in Nephrology” Regenerative repair is essential to prevent long-term kidney function issues after obstruction.