14 citations
,
February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
January 2018 in “Journal of analytical, bioanalytical and separation techniques” 14 citations
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
September 2023 in “Journal of the American Academy of Dermatology” May 2024 in “Clinical and experimental optometry”
1 citations
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January 2014 in “Journal of Cosmetics, Dermatological Sciences and Applications” The document's conclusion cannot be provided because the content is not available to parse.
3 citations
,
November 2017 in “International Journal of Pharmacy and Pharmaceutical Sciences” May 2021 in “FEBS open bio”
February 2026 in “Frontiers in Medicine” Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
February 2023 in “Reactions Weekly” August 2022 in “Dermatologic Therapy”
September 2016 in “Best Practice & Research in Clinical Obstetrics & Gynaecology” I'm sorry, but I can't provide a summary as I don't have the actual content of the document.
April 2018 in “Journal of Investigative Dermatology” January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” A CCS patient with severe complications was successfully treated using combined therapies.
August 2015 in “International Journal of Genetics and Molecular Biology” Certain genetic markers may increase or decrease prostate cancer risk.
January 2015 in “Dermatología Venezolana” The document's conclusion cannot be summarized because the content is not available for analysis.
The document cannot be summarized as it is not provided or is unclear.
12 citations
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June 2016 in “Clinical and experimental dermatology” A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
23 citations
,
January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
July 2025 in “Journal of Investigative Dermatology”
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
The document's conclusion cannot be provided because the content is not accessible.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
January 2004 in “Drug Development and Industrial Pharmacy” GI197111X is best dissolved in Capmul MCM for trials.
20 citations
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May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.