54 citations
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May 2001 in “Journal of Investigative Dermatology” Excessive putrescine causes hair loss in transgenic mice by disrupting hair follicle development.
35 citations
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August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
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.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
September 2011 in “Archives of dermatology” The child was diagnosed with cutaneous leishmaniasis.
August 1978 in “Dicp-The annals of pharmacotherapy” Mannitol diuresis allows higher doses of cis-platinum for testicular cancer treatment without increasing kidney damage.
January 2014 in “International Journal of Case Reports and Images” A woman with undifferentiated connective tissue disease was diagnosed with renal amyloidosis and carpal tunnel syndrome.
184 citations
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August 1983 in “The journal of pediatrics/The Journal of pediatrics” Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
41 citations
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September 2003 in “Journal of Investigative Dermatology” Overexpression of COX-2 causes early hair loss in mice, but can be prevented with a COX-2 inhibitor.
July 2023 in “Journal of Biomedical Science” Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
15 citations
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January 2014 in “Dermatology” Some patients with a type of skin lymphoma can experience a rare, non-scarring hair loss that looks like another hair loss condition but has distinct features.
13 citations
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July 2009 in “Pediatrics in Review” Early diagnosis and treatment of congenital adrenal hyperplasia are crucial to manage symptoms and prevent complications.
47 citations
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April 2000 in “Experimental Dermatology” A new gene mutation causes a rare type of hair loss.
34 citations
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June 1992 in “Journal of Cutaneous Pathology” Harlequin ichthyosis involves abnormal skin cell structures and giant mitochondria, affecting skin and hair.
5 citations
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January 2023 in “IDCases” Albendazole and praziquantel can cause severe side effects, especially with prolonged use or liver issues.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
January 2020 in “Animal Husbandry Dairy and Veterinary Science” Tetracycline successfully treated a Labrador's skin calcification and hair loss.
10 citations
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April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
August 2023 in “JAAD international” Most patients with Central Centrifugal Cicatricial Alopecia at the reviewed institution were middle-aged Black women, often with no symptoms, and commonly treated with topical medications.
6 citations
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January 2022 in “Veterinary Sciences” Feline cutaneous lymphocytosis is likely reactive, while canine cutaneous lymphocytosis needs more study to understand its nature.
April 2021 in “Cermin Dunia Kedokteran” Two siblings with tinea capitis improved after treatment with ketoconazole.
5 citations
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December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
1 citations
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March 2013 in “Clinical, cosmetic and investigational dermatology” The boy's hair loss was due to a hair-pulling disorder, not just a fungal infection.
9 citations
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January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
January 2017 in “Elsevier eBooks” Congenital Adrenal Hyperplasia is mainly caused by enzyme deficiencies, leading to varying symptoms like hormone imbalances and physical changes.
24 citations
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July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
June 2024 in “Indian Journal of Veterinary Medicine” The young goat had anaplasmosis and copper deficiency.
CCC1 is essential for pH balance and normal cell function in plants.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” CTCF protein is essential for skin and hair follicle development in mice.