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January 2019 in “Evidence-based Complementary and Alternative Medicine” Yangyin Qingre Huoxue Prescription may help treat atherosclerosis with fewer liver side effects than simvastatin.
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September 2016 in “Genes Brain & Behavior” Zfp462 deficiency in mice causes anxiety-like behaviors and excessive self-grooming.
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December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.
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April 2021 in “Reproductive health of woman” Most women with polycystic ovary syndrome (PCOS) have menstrual issues, infertility, acne, and excessive body hair, with the most common type being the non-androgenic phenotype.
A new genetic mutation was found causing hair and eye issues in a boy.
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January 2016 in “Medicinski glasnik Specijalne bolnice za bolesti štitaste žlezde i bolesti metabolizma” Most 46XX CAH patients have female identity, but a few identify as male and may need treatment and surgery.
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August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
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July 2015 in “Molecular cytogenetics” A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
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January 2025 in “Veterinary Dermatology” Male Pomeranians with woolly coats are more likely to develop alopecia X.
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October 1998 in “Experimental Dermatology” A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
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January 2022 in “BMC Medical Genomics” Different gene mutations cause different types of ichthyosis, with some new mutations found.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
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December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
September 2023 in “Çukurova medical journal (Online)/Çukurova medical journal” EZH2 levels decrease as fetuses develop and are higher in adult skin, which may affect skin growth and repair.
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June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
July 2024 in “Journal of Rare Diseases” Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
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September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
December 2004 in “PLoS ONE” The Foxn1(-/-) phenotype disrupts hair growth and affects skin stem cells.
November 2025 in “Indian Journal of Dermatology” Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
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October 2020 in “Frontiers in cell and developmental biology” WWOX deficiency in mice causes skin and fat tissue problems due to disrupted cell survival signals.
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April 2021 in “Advanced synthesis & catalysis” PXX is an effective and affordable photocatalyst for creating new chemical bonds in organic synthesis.
January 2023 in “Pediatrics International” Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
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September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
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November 2023 in “Cureus” Early diagnosis of Bloch-Sulzberger Syndrome is crucial to prevent severe complications.
June 2026 in “Frontiers in Cell and Developmental Biology” LHX2 is crucial for development, tissue repair, and preventing diseases.
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April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” FGF13 gene changes cause excessive hair growth in a rare condition.