1 citations
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March 2022 in “Journal of biological chemistry/The Journal of biological chemistry” Removing a specific gene in certain skin cells causes hair loss in mice by disrupting hair follicle development.
April 2023 in “Journal of Investigative Dermatology” Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
11 citations
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November 1998 in “Journal of dermatological science” Knocking out certain genes in mice helps understand skin and hair growth problems.
10 citations
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March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
13 citations
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January 2001 in “Pediatric dermatology” A dark-haired Chinese girl had hair that looked banded under certain light but was normal under a microscope.
5 citations
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June 2014 in “Der Hautarzt” Genetic testing can identify causes of rare hair loss disorders in children, but no treatments exist.
29 citations
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August 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes cause the rare hair disorder monilethrix.
14 citations
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June 2016 in “Pediatric Dermatology” Some congenital hair disorders improve with age and can be managed with treatments like minoxidil, retinoids, supplements, and gentle hair care, but there's no cure.
2 citations
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August 2014 in “Archivos argentinos de pediatría” A 6-year-old girl with Turner syndrome also had psoriasis, alopecia areata, and trachyonychia.
January 2018 in “Springer eBooks” Congenital triangular alopecia is a harmless, non-spreading hair loss condition often seen in young children.
49 citations
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April 2007 in “Pediatric Dermatology” Biotin improved hair appearance in uncombable hair syndrome but didn't change hair structure.
42 citations
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September 2003 in “Journal of Investigative Dermatology” A missing mK6irs1 gene causes hair loss in mice.
65 citations
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June 2003 in “EMBO journal” Noggin overexpression delays eyelid opening by affecting cell death and skin cell development.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
5 citations
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February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
9 citations
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September 2022 in “Journal of Clinical Investigation” Replacing defective mesenchymal cells with normal ones fixes thymic growth issues in 22q11.2DS mouse models.
January 2020 in “Research Portal Denmark” A short male anogenital distance may indicate incomplete masculinization due to disrupted androgen action.
2 citations
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January 1989 Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
January 1999 in “Journal of Investigative Dermatology”
August 2018 in “Pediatric Dermatology” A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
13 citations
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May 1996 in “Archives of Disease in Childhood” Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
264 citations
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October 1958 in “Archives of Dermatology” A 4-year-old girl has a rare hair condition causing fragile, short hair.
February 2010 in “Journal of The American Academy of Dermatology” A woman with CHILD syndrome showed skin abnormalities, and the report suggests CHILD nevus and NEVIL might be the same condition, highlighting the need for diagnosis for genetic advice.
96 citations
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June 2017 in “Nature Communications” A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
April 1977 in “Pediatric Research” 9 citations
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July 2007 in “Circulation Research” Defects in certain proteins cause major heart abnormalities during early development.
26 citations
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July 2020 in “Fertility and Sterility” Male infertility and genitourinary birth defects are often linked to genetic issues.
4 citations
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August 2018 in “Journal of pediatric neurology” Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
August 2004 in “Journal of the American College of Surgeons” Several genes, including Hox-7A, Stra6, and Lim-1, are involved in normal palate formation.