6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
20 citations
,
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.
35 citations
,
August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
April 2015 in “Dentistry 3000” Premature hair graying in the face may be influenced by genetics and environment.
20 citations
,
October 2005 in “Archives of Dermatological Research”
February 2018 in “PubMed” Society's pressure to have children later in life favors genes that increase the risk of early baldness in male offspring.
4 citations
,
January 2023 in “Frontiers in Immunology” Shorter telomeres in white blood cells may increase the risk of a common type of hair loss.
48 citations
,
May 2015 in “PLOS ONE” DNA variants can predict male pattern baldness, with higher risk scores increasing baldness likelihood.
133 citations
,
January 2009 in “Nature” Lgr5 and the vitamin D receptor are key in controlling skin inflammation and tumor risk in mice.
17 citations
,
December 2020 in “Journal of Genetic Counseling” Genetic counselors should be culturally skilled and aware of transgender patients' unique health risks and needs.
1 citations
,
February 2013 in “Clinical pediatrics” The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
21 citations
,
January 2018 in “PLoS Genetics” Certain genetic variants in keratins increase the risk of tooth decay.
5 citations
,
January 2012 in “Indian Journal of Dermatology Venereology and Leprology” Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.
56 citations
,
January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
11 citations
,
February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
21 citations
,
March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
November 2025 in “Clinical Cosmetic and Investigational Dermatology” LIPH mutations cause woolly hair in some Chinese people.
5 citations
,
June 2014 in “Der Hautarzt” Genetic testing can identify causes of rare hair loss disorders in children, but no treatments exist.
4 citations
,
February 2025 in “Journal of Autoimmunity” Alopecia Areata often runs in families and is linked to other autoimmune conditions.
195 citations
,
June 2005 in “American Journal of Human Genetics” Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
1 citations
,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
23 citations
,
July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
11 citations
,
April 2024 in “Allergy Asthma and Clinical Immunology” Allergies and atopic conditions may increase the risk of developing alopecia areata.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
41 citations
,
November 2011 in “The Journal of Dermatology” Some hair loss disorders are caused by genetic mutations affecting hair growth.
55 citations
,
October 1992 in “Archives of Dermatology” Loose Anagen Hair Syndrome is a hereditary condition causing hair loss in children due to abnormal hair follicles.
78 citations
,
May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
April 1977 in “Pediatric Research” 25 citations
,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene mutation causes varying hair loss severity in a Pakistani family.
3 citations
,
June 2020 in “Frontiers in Immunology” Parental uveitis increases offspring's risk and severity of autoimmune eye disease.