84 citations
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March 2002 in “The Journal of Dermatology” Steatocystoma multiplex is a skin condition starting around age 26, linked to hair follicles, and related to eruptive vellus hair cysts.
July 2011 in “Journal of Pediatric and Adolescent Gynecology” A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
26 citations
,
August 2014 in “Veterinary Dermatology” Sphynx cats have abnormal hair follicles and keratinization affecting their skin.
175 citations
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August 1997 in “Nature Genetics” 3 citations
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January 2021 in “Veterinary dermatology” A litter of cats had a hair condition similar to a mouse mutation, leading to hair loss and abnormal hair and skin.
15 citations
,
April 2011 in “Biological Chemistry” Cathepsin E is crucial for normal skin cell differentiation and development.
175 citations
,
September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
3 citations
,
December 2020 in “Skin Appendage Disorders” Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
14 citations
,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
1 citations
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June 2023 in “Acta veterinaria” Maternal hypothyroidism harms skin development in rat offspring.