10 citations
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October 2010 in “Hepatology” Certain liver diseases respond well to specific treatments and have varying risks for liver cancer.
26 citations
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April 2007 in “Journal of pediatric gastroenterology and nutrition” A teenage girl with high androgen levels and PCOS developed a rare liver tumor, suggesting a possible link between high androgens and the tumor's growth.
August 2024 in “Jordan Medical Journal” Picky eating in children is linked to lower weight, hemoglobin, vitamin D, and zinc levels.
24 citations
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June 2015 in “Journal of Investigative Dermatology” aPKCλ is crucial for keeping hair follicle stem cells inactive and maintaining normal hair growth.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
7 citations
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April 2008 in “Progrès en Urologie”
April 2021 in “Research Square (Research Square)” The new cocrystal KET-PABA is a more effective and safe anti-inflammatory treatment for skin conditions in mice.
2 citations
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September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
Careful diagnosis is crucial for premature pubarche, as 20% of cases have other conditions.
43 citations
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July 2012 in “Molecular human reproduction” Certain metabolites are lower in women with PCOS and could be potential markers for the condition.
January 2017 in “Elsevier eBooks” Congenital Adrenal Hyperplasia is mainly caused by enzyme deficiencies, leading to varying symptoms like hormone imbalances and physical changes.
November 2024 in “NeoReviews” An extremely low-birthweight infant had a rare genetic skin disease and died despite treatment.
97 citations
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March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
4 citations
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May 2020 in “The journal of pediatrics/The Journal of pediatrics” A boy with monilethrix has brittle hair that breaks easily due to a genetic condition, which might improve by puberty.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
59 citations
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March 2003 in “The Lancet” Imatinib can repigment grey hair, while SU11428 can cause temporary hair depigmentation.
100 citations
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May 2011 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
3 citations
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August 2023 in “The Journal of Pediatrics” Sodium valproate can rarely cause skin darkening, which may improve after stopping the drug.
October 2020 in “The American Journal of Gastroenterology” Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
April 2019 in “Journal of the Endocrine Society” Mosaic Klinefelter syndrome can affect male fertility and may be missed in routine tests.
5 citations
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January 2016 in “Open Journal of Regenerative Medicine” Myoblast transplantation shows promise for treating various muscle and heart conditions.
Zinc supplements and genetic analysis help treat acrodermatitis enteropathica in children.
41 citations
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December 2008 in “Pediatric Dermatology” Trichoscopy can diagnose Netherton syndrome without pulling hairs.
18 citations
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June 2017 in “Proceedings of the National Academy of Sciences of the United States of America” A gene called Gk5 controls lipid production in the skin and affects hair growth.
January 2008 in “Elsevier eBooks” The young woman with epilepsy became seizure-free after finding the right combination of medications.
1 citations
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July 2024 in “Indian Journal of Case Reports” GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
March 2003 in “中華皮膚科醫學雜誌” Trichothiodystrophy causes unusual hair and developmental issues.
November 2022 in “Indian Journal of Dermatology/Indian journal of dermatology” Valproic acid can cause dark lines on nails.
40 citations
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May 2010 in “American Journal of Clinical Dermatology” AKN might be a skin marker for metabolic syndrome.
99 citations
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March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.